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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs74315379

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr1:201364336 (GRCh38.p7) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00011 (28/245088, GnomAD)
T=0.00017 (20/115868, ExAC)
T=0.001 (3/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TNNT2 : Missense Variant
Publications
16 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p7 chr 1 NC_000001.11:g.201364336G>A
GRCh38.p7 chr 1 NC_000001.11:g.201364336G>T
GRCh37.p13 chr 1 NC_000001.10:g.201333464G>A
GRCh37.p13 chr 1 NC_000001.10:g.201333464G>T
TNNT2 RefSeqGene NG_007556.1:g.18342C>T
TNNT2 RefSeqGene NG_007556.1:g.18342C>A
Gene: TNNT2, troponin T2, cardiac type (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TNNT2 transcript variant 2 NM_001001430.2:c....

NM_001001430.2:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 2 NP_001001430.1:p....

NP_001001430.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 2 NM_001001430.2:c....

NM_001001430.2:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 2 NP_001001430.1:p....

NP_001001430.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 1 NM_000364.3:c.451C>T R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 1 NP_000355.2:p.Arg...

NP_000355.2:p.Arg151Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 1 NM_000364.3:c.451C>A R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 1 NP_000355.2:p.Arg...

NP_000355.2:p.Arg151=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 3 NM_001001431.2:c....

NM_001001431.2:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 3 NP_001001431.1:p....

NP_001001431.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 3 NM_001001431.2:c....

NM_001001431.2:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 3 NP_001001431.1:p....

NP_001001431.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 4 NM_001001432.2:c....

NM_001001432.2:c.406C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 4 NP_001001432.1:p....

NP_001001432.1:p.Arg136Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 4 NM_001001432.2:c....

NM_001001432.2:c.406C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 4 NP_001001432.1:p....

NP_001001432.1:p.Arg136=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 5 NM_001276345.1:c....

NM_001276345.1:c.451C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 5 NP_001263274.1:p....

NP_001263274.1:p.Arg151Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 5 NM_001276345.1:c....

NM_001276345.1:c.451C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 5 NP_001263274.1:p....

NP_001263274.1:p.Arg151=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 6 NM_001276346.1:c....

NM_001276346.1:c.331C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 6 NP_001263275.1:p....

NP_001263275.1:p.Arg111Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 6 NM_001276346.1:c....

NM_001276346.1:c.331C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 6 NP_001263275.1:p....

NP_001263275.1:p.Arg111=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant 7 NM_001276347.1:c....

NM_001276347.1:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 2 NP_001263276.1:p....

NP_001263276.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant 7 NM_001276347.1:c....

NM_001276347.1:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform 2 NP_001263276.1:p....

NP_001263276.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X3 XM_011509939.1:c....

XM_011509939.1:c.448C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X2 XP_011508241.1:p....

XP_011508241.1:p.Arg150Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X3 XM_011509939.1:c....

XM_011509939.1:c.448C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X2 XP_011508241.1:p....

XP_011508241.1:p.Arg150=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X15 XM_011509946.1:c....

XM_011509946.1:c.244C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X11 XP_011508248.1:p....

XP_011508248.1:p.Arg82Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X15 XM_011509946.1:c....

XM_011509946.1:c.244C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X11 XP_011508248.1:p....

XP_011508248.1:p.Arg82=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X2 XM_011509938.2:c....

XM_011509938.2:c.451C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X1 XP_011508240.1:p....

XP_011508240.1:p.Arg151Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X2 XM_011509938.2:c....

XM_011509938.2:c.451C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X1 XP_011508240.1:p....

XP_011508240.1:p.Arg151=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X4 XM_011509940.2:c....

XM_011509940.2:c.451C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X3 XP_011508242.1:p....

XP_011508242.1:p.Arg151Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X4 XM_011509940.2:c....

XM_011509940.2:c.451C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X3 XP_011508242.1:p....

XP_011508242.1:p.Arg151=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X5 XM_011509941.2:c....

XM_011509941.2:c.448C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X4 XP_011508243.1:p....

XP_011508243.1:p.Arg150Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X5 XM_011509941.2:c....

XM_011509941.2:c.448C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X4 XP_011508243.1:p....

XP_011508243.1:p.Arg150=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X6 XM_006711508.3:c....

XM_006711508.3:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X5 XP_006711571.1:p....

XP_006711571.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X6 XM_006711508.3:c....

XM_006711508.3:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X5 XP_006711571.1:p....

XP_006711571.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X7 XM_006711509.3:c....

XM_006711509.3:c.418C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X6 XP_006711572.1:p....

XP_006711572.1:p.Arg140Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X7 XM_006711509.3:c....

XM_006711509.3:c.418C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X6 XP_006711572.1:p....

XP_006711572.1:p.Arg140=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X7 XM_017002216.1:c....

XM_017002216.1:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X7 XP_016857705.1:p....

XP_016857705.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X7 XM_017002216.1:c....

XM_017002216.1:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X7 XP_016857705.1:p....

XP_016857705.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X11 XM_017002217.1:c....

XM_017002217.1:c.421C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X8 XP_016857706.1:p....

XP_016857706.1:p.Arg141Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X11 XM_017002217.1:c....

XM_017002217.1:c.421C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X8 XP_016857706.1:p....

XP_016857706.1:p.Arg141=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X12 XM_011509942.2:c....

XM_011509942.2:c.406C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X9 XP_011508244.1:p....

XP_011508244.1:p.Arg136Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X12 XM_011509942.2:c....

XM_011509942.2:c.406C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X9 XP_011508244.1:p....

XP_011508244.1:p.Arg136=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X13 XM_011509943.2:c....

XM_011509943.2:c.406C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X9 XP_011508245.1:p....

XP_011508245.1:p.Arg136Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X13 XM_011509943.2:c....

XM_011509943.2:c.406C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X9 XP_011508245.1:p....

XP_011508245.1:p.Arg136=

R (Arg) > R (Arg) Synonymous Variant
TNNT2 transcript variant X14 XM_011509944.2:c....

XM_011509944.2:c.403C>T

R [CGG] > W [TGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X10 XP_011508246.1:p....

XP_011508246.1:p.Arg135Trp

R (Arg) > W (Trp) Missense Variant
TNNT2 transcript variant X14 XM_011509944.2:c....

XM_011509944.2:c.403C>A

R [CGG] > R [AGG] Coding Sequence Variant
troponin T, cardiac muscle isoform X10 XP_011508246.1:p....

XP_011508246.1:p.Arg135=

R (Arg) > R (Arg) Synonymous Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 27453 )
ClinVar Accession Disease Names Clinical Significance
RCV000013225.27 Left ventricular noncompaction 6 Pathogenic
RCV000157537.1 Primary dilated cardiomyopathy Pathogenic
RCV000159296.2 not provided Pathogenic
RCV000211866.1 Cardiomyopathy Pathogenic
RCV000257931.2 Primary familial hypertrophic cardiomyopathy Likely-Pathogenic
RCV000524542.2 Familial hypertrophic cardiomyopathy 2,Familial restrictive cardiomyopathy 3,Left ventricular noncompaction 6 Pathogenic
Allele: T (allele ID: 52812 )
ClinVar Accession Disease Names Clinical Significance
RCV000036591.3 not specified Likely-Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
The Genome Aggregation Database Global Study-wide 245088 G=0.99989 T=0.00011
The Genome Aggregation Database European Sub 133064 G=1.00000 T=0.00000
The Genome Aggregation Database Asian Sub 47938 G=0.9994 T=0.0006
The Genome Aggregation Database American Sub 33552 G=1.0000 T=0.0000
The Genome Aggregation Database African Sub 15234 G=1.0000 T=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9838 G=1.000 T=0.000
The Genome Aggregation Database Other Sub 5462 G=1.000 T=0.000
The Exome Aggregation Consortium Global Study-wide 115868 G=0.99983 T=0.00017
The Exome Aggregation Consortium Europe Sub 70088 G=1.0000 T=0.0000
The Exome Aggregation Consortium Asian Sub 24070 G=0.9992 T=0.0008
The Exome Aggregation Consortium American Sub 11186 G=1.0000 T=0.0000
The Exome Aggregation Consortium African Sub 9684 G=1.000 T=0.000
The Exome Aggregation Consortium Other Sub 840 G=1.00 T=0.00
1000Genomes Global Study-wide 5008 G=0.999 T=0.001
1000Genomes African Sub 1322 G=1.000 T=0.000
1000Genomes East Asian Sub 1008 G=1.000 T=0.000
1000Genomes Europe Sub 1006 G=1.000 T=0.000
1000Genomes South Asian Sub 978 G=1.00 T=0.00
1000Genomes American Sub 694 G=1.00 T=0.00
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T Note
GRCh38.p7 chr 1 NC_000001.11:g.20...

NC_000001.11:g.201364336G=

NC_000001.11:g.20...

NC_000001.11:g.201364336G>A

NC_000001.11:g.20...

NC_000001.11:g.201364336G>T

GRCh37.p13 chr 1 NC_000001.10:g.20...

NC_000001.10:g.201333464G=

NC_000001.10:g.20...

NC_000001.10:g.201333464G>A

NC_000001.10:g.20...

NC_000001.10:g.201333464G>T

TNNT2 RefSeqGene NG_007556.1:g.183...

NG_007556.1:g.18342C=

NG_007556.1:g.183...

NG_007556.1:g.18342C>T

NG_007556.1:g.183...

NG_007556.1:g.18342C>A

TNNT2 transcript variant 1 NM_000364.3:c.451C= NM_000364.3:c.451C>T NM_000364.3:c.451C>A
TNNT2 transcript variant 2 NM_001001430.2:c....

NM_001001430.2:c.421C=

NM_001001430.2:c....

NM_001001430.2:c.421C>T

NM_001001430.2:c....

NM_001001430.2:c.421C>A

TNNT2 transcript variant 3 NM_001001431.2:c....

NM_001001431.2:c.421C=

NM_001001431.2:c....

NM_001001431.2:c.421C>T

NM_001001431.2:c....

NM_001001431.2:c.421C>A

TNNT2 transcript variant 4 NM_001001432.2:c....

NM_001001432.2:c.406C=

NM_001001432.2:c....

NM_001001432.2:c.406C>T

NM_001001432.2:c....

NM_001001432.2:c.406C>A

TNNT2 transcript variant 7 NM_001276347.1:c....

NM_001276347.1:c.421C=

NM_001276347.1:c....

NM_001276347.1:c.421C>T

NM_001276347.1:c....

NM_001276347.1:c.421C>A

TNNT2 transcript variant 5 NM_001276345.1:c....

NM_001276345.1:c.451C=

NM_001276345.1:c....

NM_001276345.1:c.451C>T

NM_001276345.1:c....

NM_001276345.1:c.451C>A

TNNT2 transcript variant 6 NM_001276346.1:c....

NM_001276346.1:c.331C=

NM_001276346.1:c....

NM_001276346.1:c.331C>T

NM_001276346.1:c....

NM_001276346.1:c.331C>A

TNNT2 transcript variant X7 XM_006711509.3:c....

XM_006711509.3:c.418C=

XM_006711509.3:c....

XM_006711509.3:c.418C>T

XM_006711509.3:c....

XM_006711509.3:c.418C>A

TNNT2 transcript variant X6 XM_006711508.3:c....

XM_006711508.3:c.421C=

XM_006711508.3:c....

XM_006711508.3:c.421C>T

XM_006711508.3:c....

XM_006711508.3:c.421C>A

TNNT2 transcript variant X4 XM_011509940.2:c....

XM_011509940.2:c.451C=

XM_011509940.2:c....

XM_011509940.2:c.451C>T

XM_011509940.2:c....

XM_011509940.2:c.451C>A

TNNT2 transcript variant X5 XM_011509941.2:c....

XM_011509941.2:c.448C=

XM_011509941.2:c....

XM_011509941.2:c.448C>T

XM_011509941.2:c....

XM_011509941.2:c.448C>A

TNNT2 transcript variant X2 XM_011509938.2:c....

XM_011509938.2:c.451C=

XM_011509938.2:c....

XM_011509938.2:c.451C>T

XM_011509938.2:c....

XM_011509938.2:c.451C>A

TNNT2 transcript variant X12 XM_011509942.2:c....

XM_011509942.2:c.406C=

XM_011509942.2:c....

XM_011509942.2:c.406C>T

XM_011509942.2:c....

XM_011509942.2:c.406C>A

TNNT2 transcript variant X14 XM_011509944.2:c....

XM_011509944.2:c.403C=

XM_011509944.2:c....

XM_011509944.2:c.403C>T

XM_011509944.2:c....

XM_011509944.2:c.403C>A

TNNT2 transcript variant X13 XM_011509943.2:c....

XM_011509943.2:c.406C=

XM_011509943.2:c....

XM_011509943.2:c.406C>T

XM_011509943.2:c....

XM_011509943.2:c.406C>A

TNNT2 transcript variant X11 XM_017002217.1:c....

XM_017002217.1:c.421C=

XM_017002217.1:c....

XM_017002217.1:c.421C>T

XM_017002217.1:c....

XM_017002217.1:c.421C>A

TNNT2 transcript variant X15 XM_011509946.1:c....

XM_011509946.1:c.244C=

XM_011509946.1:c....

XM_011509946.1:c.244C>T

XM_011509946.1:c....

XM_011509946.1:c.244C>A

TNNT2 transcript variant X3 XM_011509939.1:c....

XM_011509939.1:c.448C=

XM_011509939.1:c....

XM_011509939.1:c.448C>T

XM_011509939.1:c....

XM_011509939.1:c.448C>A

TNNT2 transcript variant X7 XM_017002216.1:c....

XM_017002216.1:c.421C=

XM_017002216.1:c....

XM_017002216.1:c.421C>T

XM_017002216.1:c....

XM_017002216.1:c.421C>A

troponin T, cardiac muscle isoform 1 NP_000355.2:p.Arg...

NP_000355.2:p.Arg151=

NP_000355.2:p.Arg...

NP_000355.2:p.Arg151Trp

NP_000355.2:p.Arg...

NP_000355.2:p.Arg151=

troponin T, cardiac muscle isoform 2 NP_001001430.1:p....

NP_001001430.1:p.Arg141=

NP_001001430.1:p....

NP_001001430.1:p.Arg141Trp

NP_001001430.1:p....

NP_001001430.1:p.Arg141=

troponin T, cardiac muscle isoform 3 NP_001001431.1:p....

NP_001001431.1:p.Arg141=

NP_001001431.1:p....

NP_001001431.1:p.Arg141Trp

NP_001001431.1:p....

NP_001001431.1:p.Arg141=

troponin T, cardiac muscle isoform 4 NP_001001432.1:p....

NP_001001432.1:p.Arg136=

NP_001001432.1:p....

NP_001001432.1:p.Arg136Trp

NP_001001432.1:p....

NP_001001432.1:p.Arg136=

troponin T, cardiac muscle isoform 2 NP_001263276.1:p....

NP_001263276.1:p.Arg141=

NP_001263276.1:p....

NP_001263276.1:p.Arg141Trp

NP_001263276.1:p....

NP_001263276.1:p.Arg141=

troponin T, cardiac muscle isoform 5 NP_001263274.1:p....

NP_001263274.1:p.Arg151=

NP_001263274.1:p....

NP_001263274.1:p.Arg151Trp

NP_001263274.1:p....

NP_001263274.1:p.Arg151=

troponin T, cardiac muscle isoform 6 NP_001263275.1:p....

NP_001263275.1:p.Arg111=

NP_001263275.1:p....

NP_001263275.1:p.Arg111Trp

NP_001263275.1:p....

NP_001263275.1:p.Arg111=

troponin T, cardiac muscle isoform X6 XP_006711572.1:p....

XP_006711572.1:p.Arg140=

XP_006711572.1:p....

XP_006711572.1:p.Arg140Trp

XP_006711572.1:p....

XP_006711572.1:p.Arg140=

troponin T, cardiac muscle isoform X5 XP_006711571.1:p....

XP_006711571.1:p.Arg141=

XP_006711571.1:p....

XP_006711571.1:p.Arg141Trp

XP_006711571.1:p....

XP_006711571.1:p.Arg141=

troponin T, cardiac muscle isoform X3 XP_011508242.1:p....

XP_011508242.1:p.Arg151=

XP_011508242.1:p....

XP_011508242.1:p.Arg151Trp

XP_011508242.1:p....

XP_011508242.1:p.Arg151=

troponin T, cardiac muscle isoform X4 XP_011508243.1:p....

XP_011508243.1:p.Arg150=

XP_011508243.1:p....

XP_011508243.1:p.Arg150Trp

XP_011508243.1:p....

XP_011508243.1:p.Arg150=

troponin T, cardiac muscle isoform X1 XP_011508240.1:p....

XP_011508240.1:p.Arg151=

XP_011508240.1:p....

XP_011508240.1:p.Arg151Trp

XP_011508240.1:p....

XP_011508240.1:p.Arg151=

troponin T, cardiac muscle isoform X9 XP_011508244.1:p....

XP_011508244.1:p.Arg136=

XP_011508244.1:p....

XP_011508244.1:p.Arg136Trp

XP_011508244.1:p....

XP_011508244.1:p.Arg136=

troponin T, cardiac muscle isoform X10 XP_011508246.1:p....

XP_011508246.1:p.Arg135=

XP_011508246.1:p....

XP_011508246.1:p.Arg135Trp

XP_011508246.1:p....

XP_011508246.1:p.Arg135=

troponin T, cardiac muscle isoform X9 XP_011508245.1:p....

XP_011508245.1:p.Arg136=

XP_011508245.1:p....

XP_011508245.1:p.Arg136Trp

XP_011508245.1:p....

XP_011508245.1:p.Arg136=

troponin T, cardiac muscle isoform X8 XP_016857706.1:p....

XP_016857706.1:p.Arg141=

XP_016857706.1:p....

XP_016857706.1:p.Arg141Trp

XP_016857706.1:p....

XP_016857706.1:p.Arg141=

troponin T, cardiac muscle isoform X11 XP_011508248.1:p....

XP_011508248.1:p.Arg82=

XP_011508248.1:p....

XP_011508248.1:p.Arg82Trp

XP_011508248.1:p....

XP_011508248.1:p.Arg82=

troponin T, cardiac muscle isoform X2 XP_011508241.1:p....

XP_011508241.1:p.Arg150=

XP_011508241.1:p....

XP_011508241.1:p.Arg150Trp

XP_011508241.1:p....

XP_011508241.1:p.Arg150=

troponin T, cardiac muscle isoform X7 XP_016857705.1:p....

XP_016857705.1:p.Arg141=

XP_016857705.1:p....

XP_016857705.1:p.Arg141Trp

XP_016857705.1:p....

XP_016857705.1:p.Arg141=

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

3 Frequency, 8 SubSNP, 7 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMICIA ss179320224 Aug 28, 2012 (137)
2 OMICIA ss179320226 Aug 28, 2012 (137)
3 OMIM-CURATED-RECORDS ss288287826 Dec 21, 2010 (133)
4 LMM-PCPGM ss836316103 Nov 27, 2013 (138)
5 1000GENOMES ss1294224539 Aug 21, 2014 (142)
6 EVA_EXAC ss1685989978 Apr 01, 2015 (144)
7 GNOMAD ss2732175727 Nov 08, 2017 (151)
8 AFFY ss2984890325 Nov 08, 2017 (151)
9 1000Genomes NC_000001.10 - 201333464 Jul 19, 2018 (151)
10 The Exome Aggregation Consortium NC_000001.10 - 201333464 Jul 19, 2018 (151)
11 The Genome Aggregation Database NC_000001.10 - 201333464 Jul 19, 2018 (151)
12 ClinVar RCV000013225.27 Jul 19, 2018 (151)
13 ClinVar RCV000036591.3 Jul 19, 2018 (151)
14 ClinVar RCV000157537.1 Jul 19, 2018 (151)
15 ClinVar RCV000159296.2 Jul 19, 2018 (151)
16 ClinVar RCV000211866.1 Jul 19, 2018 (151)
17 ClinVar RCV000257931.2 Jul 19, 2018 (151)
18 ClinVar RCV000524542.2 Jul 19, 2018 (151)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs74315381 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
5064070, 5222095, 1190462, ss1294224539, ss1685989978, ss1711650783, ss2732175727, ss2746532678, ss2765017143, ss2984890324, ss2984890325, ss3021168412 NC_000001.10:201333463:G= NC_000001.11:201364335:G= (self) , rs730881115
ss179320224, ss179320226, ss288287826, ss836316103, ss1584002208, ss3100644043 NC_000001.11:201364335:G= NC_000001.11:201364335:G= (self) , rs730881115
ss2984890325 NC_000001.10:201333463:G>A NC_000001.11:201364335:G>A (self)
RCV000013225.27, RCV000157537.1, RCV000159296.2, RCV000211866.1, RCV000257931.2, RCV000524542.2, ss179320224, ss179320226, ss288287826 NC_000001.11:201364335:G>A NC_000001.11:201364335:G>A (self)
5064070, 5222095, 1190462, ss1294224539, ss1685989978, ss2732175727 NC_000001.10:201333463:G>T NC_000001.11:201364335:G>T (self)
RCV000036591.3, ss836316103 NC_000001.11:201364335:G>T NC_000001.11:201364335:G>T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

16 citations for rs74315379
PMID Title Author Year Journal
11684629 Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Li D et al. 2001 Circulation
12923187 Different functional properties of troponin T mutants that cause dilated cardiomyopathy. Venkatraman G et al. 2003 The Journal of biological chemistry
14654368 Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization. Lu QW et al. 2003 Journal of molecular and cellular cardiology
15623536 Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. Venkatraman G et al. 2005 The Journal of biological chemistry
15769782 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Villard E et al. 2005 European heart journal
15923195 Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. Mirza M et al. 2005 The Journal of biological chemistry
17932326 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Robinson P et al. 2007 Circulation research
18349139 Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. Lombardi R et al. 2008 Cardiovascular research
18414213 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Richards CS et al. 2008 Genetics in medicine
18506004 Mutations in sarcomere protein genes in left ventricular noncompaction. Klaassen S et al. 2008 Circulation
19253838 [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population]. Chen B et al. 2008 Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
22675533 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. Liu B et al. 2012 PloS one
23539503 Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. Memo M et al. 2013 Cardiovascular research
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24367593 Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. Sommese RF et al. 2013 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 0.1.4.post833+d3ba21e