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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.

rs118192143

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr19:38580395 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00000 (1/246166, GnomAD)
G=0.00001 (1/120992, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
RYR1 : Missense Variant
Publications
3 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 19 NC_000019.10:g.38580395C>G
GRCh38.p7 chr 19 NC_000019.10:g.38580395C>T
GRCh37.p13 chr 19 NC_000019.9:g.39071035C>G
GRCh37.p13 chr 19 NC_000019.9:g.39071035C>T
RYR1 RefSeqGene (LRG_766) NG_008866.1:g.151696C>G
RYR1 RefSeqGene (LRG_766) NG_008866.1:g.151696C>T
Gene: RYR1, ryanodine receptor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RYR1 transcript variant 1 NM_000540.2:c.145...

NM_000540.2:c.14537C>G

A [GCG] > G [GGG] Coding Sequence Variant
ryanodine receptor 1 isoform 1 NP_000531.2:p.Ala...

NP_000531.2:p.Ala4846Gly

A (Ala) > G (Gly) Missense Variant
RYR1 transcript variant 1 NM_000540.2:c.145...

NM_000540.2:c.14537C>T

A [GCG] > V [GTG] Coding Sequence Variant
ryanodine receptor 1 isoform 1 NP_000531.2:p.Ala...

NP_000531.2:p.Ala4846Val

A (Ala) > V (Val) Missense Variant
RYR1 transcript variant 2 NM_001042723.1:c....

NM_001042723.1:c.14522C>G

A [GCG] > G [GGG] Coding Sequence Variant
ryanodine receptor 1 isoform 2 NP_001036188.1:p....

NP_001036188.1:p.Ala4841Gly

A (Ala) > G (Gly) Missense Variant
RYR1 transcript variant 2 NM_001042723.1:c....

NM_001042723.1:c.14522C>T

A [GCG] > V [GTG] Coding Sequence Variant
ryanodine receptor 1 isoform 2 NP_001036188.1:p....

NP_001036188.1:p.Ala4841Val

A (Ala) > V (Val) Missense Variant
RYR1 transcript variant X1 XM_006723317.2:c....

XM_006723317.2:c.14519C>G

A [GCG] > G [GGG] Coding Sequence Variant
ryanodine receptor 1 isoform X1 XP_006723380.1:p....

XP_006723380.1:p.Ala4840Gly

A (Ala) > G (Gly) Missense Variant
RYR1 transcript variant X1 XM_006723317.2:c....

XM_006723317.2:c.14519C>T

A [GCG] > V [GTG] Coding Sequence Variant
ryanodine receptor 1 isoform X1 XP_006723380.1:p....

XP_006723380.1:p.Ala4840Val

A (Ala) > V (Val) Missense Variant
RYR1 transcript variant X2 XM_006723319.2:c....

XM_006723319.2:c.14504C>G

A [GCG] > G [GGG] Coding Sequence Variant
ryanodine receptor 1 isoform X2 XP_006723382.1:p....

XP_006723382.1:p.Ala4835Gly

A (Ala) > G (Gly) Missense Variant
RYR1 transcript variant X2 XM_006723319.2:c....

XM_006723319.2:c.14504C>T

A [GCG] > V [GTG] Coding Sequence Variant
ryanodine receptor 1 isoform X2 XP_006723382.1:p....

XP_006723382.1:p.Ala4835Val

A (Ala) > V (Val) Missense Variant
RYR1 transcript variant X3 XM_011527205.2:c....

XM_011527205.2:c.14450C>G

A [GCG] > G [GGG] Coding Sequence Variant
ryanodine receptor 1 isoform X3 XP_011525507.1:p....

XP_011525507.1:p.Ala4817Gly

A (Ala) > G (Gly) Missense Variant
RYR1 transcript variant X3 XM_011527205.2:c....

XM_011527205.2:c.14450C>T

A [GCG] > V [GTG] Coding Sequence Variant
ryanodine receptor 1 isoform X3 XP_011525507.1:p....

XP_011525507.1:p.Ala4817Val

A (Ala) > V (Val) Missense Variant
RYR1 transcript variant X4 XR_001753735.1:n. N/A Genic Downstream Transcript 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: T (allele ID: 76833 )
ClinVar Accession Disease Names Clinical Significance
RCV000056172.1 Central core disease Pathogenic
RCV000119525.1 not provided Not-Provided
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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
The Genome Aggregation Database Global Study-wide 246166 C=1.00000 G=0.00000
The Genome Aggregation Database European Sub 133920 C=1.00000 G=0.00000
The Genome Aggregation Database Asian Sub 48030 C=1.0000 G=0.0000
The Genome Aggregation Database American Sub 33580 C=1.0000 G=0.0000
The Genome Aggregation Database African Sub 15300 C=1.0000 G=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9850 C=1.000 G=0.000
The Genome Aggregation Database Other Sub 5486 C=1.000 G=0.000
The Exome Aggregation Consortium Global Study-wide 120992 C=0.99999 G=0.00001
The Exome Aggregation Consortium Europe Sub 73076 C=1.0000 G=0.0000
The Exome Aggregation Consortium Asian Sub 25118 C=1.0000 G=0.0000
The Exome Aggregation Consortium American Sub 11524 C=1.0000 G=0.0000
The Exome Aggregation Consortium African Sub 10376 C=1.0000 G=0.0000
The Exome Aggregation Consortium Other Sub 898 C=1.00 G=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 C= G T Note
GRCh38.p7 chr 19 NC_000019.10:g.38...

NC_000019.10:g.38580395C=

NC_000019.10:g.38...

NC_000019.10:g.38580395C>G

NC_000019.10:g.38...

NC_000019.10:g.38580395C>T

GRCh37.p13 chr 19 NC_000019.9:g.390...

NC_000019.9:g.39071035C=

NC_000019.9:g.390...

NC_000019.9:g.39071035C>G

NC_000019.9:g.390...

NC_000019.9:g.39071035C>T

RYR1 RefSeqGene (LRG_766) NG_008866.1:g.151...

NG_008866.1:g.151696C=

NG_008866.1:g.151...

NG_008866.1:g.151696C>G

NG_008866.1:g.151...

NG_008866.1:g.151696C>T

RYR1 transcript variant 1 NM_000540.2:c.145...

NM_000540.2:c.14537C=

NM_000540.2:c.145...

NM_000540.2:c.14537C>G

NM_000540.2:c.145...

NM_000540.2:c.14537C>T

RYR1 transcript variant 2 NM_001042723.1:c....

NM_001042723.1:c.14522C=

NM_001042723.1:c....

NM_001042723.1:c.14522C>G

NM_001042723.1:c....

NM_001042723.1:c.14522C>T

RYR1 transcript variant X1 XM_006723317.2:c....

XM_006723317.2:c.14519C=

XM_006723317.2:c....

XM_006723317.2:c.14519C>G

XM_006723317.2:c....

XM_006723317.2:c.14519C>T

RYR1 transcript variant X2 XM_006723319.2:c....

XM_006723319.2:c.14504C=

XM_006723319.2:c....

XM_006723319.2:c.14504C>G

XM_006723319.2:c....

XM_006723319.2:c.14504C>T

RYR1 transcript variant X3 XM_011527205.2:c....

XM_011527205.2:c.14450C=

XM_011527205.2:c....

XM_011527205.2:c.14450C>G

XM_011527205.2:c....

XM_011527205.2:c.14450C>T

ryanodine receptor 1 isoform 1 NP_000531.2:p.Ala...

NP_000531.2:p.Ala4846=

NP_000531.2:p.Ala...

NP_000531.2:p.Ala4846Gly

NP_000531.2:p.Ala...

NP_000531.2:p.Ala4846Val

ryanodine receptor 1 isoform 2 NP_001036188.1:p....

NP_001036188.1:p.Ala4841=

NP_001036188.1:p....

NP_001036188.1:p.Ala4841Gly

NP_001036188.1:p....

NP_001036188.1:p.Ala4841Val

ryanodine receptor 1 isoform X1 XP_006723380.1:p....

XP_006723380.1:p.Ala4840=

XP_006723380.1:p....

XP_006723380.1:p.Ala4840Gly

XP_006723380.1:p....

XP_006723380.1:p.Ala4840Val

ryanodine receptor 1 isoform X2 XP_006723382.1:p....

XP_006723382.1:p.Ala4835=

XP_006723382.1:p....

XP_006723382.1:p.Ala4835Gly

XP_006723382.1:p....

XP_006723382.1:p.Ala4835Val

ryanodine receptor 1 isoform X3 XP_011525507.1:p....

XP_011525507.1:p.Ala4817=

XP_011525507.1:p....

XP_011525507.1:p.Ala4817Gly

XP_011525507.1:p....

XP_011525507.1:p.Ala4817Val

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#.

2 ClinVar, 2 Frequency, 6 SubSNP submissions
No Submitter Submission ID Date (Build)
1 GENEREVIEWS ss252444711 Sep 12, 2013 (136)
2 LUMC-LOVD ss475871740 Nov 25, 2011 (136)
3 EVA_EXAC ss1693579901 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2225697713 Dec 20, 2016 (150)
5 GNOMAD ss2743961288 Nov 08, 2017 (151)
6 ILLUMINA ss3021904323 Nov 08, 2017 (151)
7 The Exome Aggregation Consortium NC_000019.9 - 39071035 Jul 20, 2018 (151)
8 The Genome Aggregation Database NC_000019.9 - 39071035 Jul 20, 2018 (151)
9 ClinVar RCV000056172.1 Jul 20, 2018 (151)
10 ClinVar RCV000119525.1 Jul 20, 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).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
4083055, 12976023, ss1693579901, ss2743961288, ss3021904323 NC_000019.9:39071034:C= NC_000019.10:38580394:C= (self)
ss252444711, ss475871740, ss2225697713 NC_000019.10:38580394:C= NC_000019.10:38580394:C= (self)
4083055, 12976023, ss1693579901, ss2743961288 NC_000019.9:39071034:C>G NC_000019.10:38580394:C>G (self)
ss2225697713 NC_000019.10:38580394:C>G NC_000019.10:38580394:C>G (self)
ss3021904323 NC_000019.9:39071034:C>T NC_000019.10:38580394:C>T (self)
RCV000056172.1, RCV000119525.1, ss252444711, ss475871740 NC_000019.10:38580394:C>T NC_000019.10:38580394:C>T (self)
Help

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

3 citations for rs118192143
PMID Title Author Year Journal
17204054 Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. Gambelli S et al. 2007 Clinical genetics
17226826 Central core disease due to recessive mutations in RYR1 gene: is it more common than described? Kossugue PM et al. 2007 Muscle & nerve
20301565 Central Core Disease Malicdan MCV et al. 1993 GeneReviews®

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