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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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.

rs1057517937

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr2:178570640 (GRCh38.p12) 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
delG
Variation Type
Deletion
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
TTN : Frameshift
TTN-AS1 : Intron Variant
Publications
0 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.p12 chr 2 NC_000002.12:g.178570640delG
GRCh37.p13 chr 2 NC_000002.11:g.179435367delG
TTN RefSeqGene (LRG_391) NG_011618.3:g.265163delC
TTN-AS1 RefSeqGene NG_051363.1:g.52814delG
Gene: TTN, titin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TTN transcript variant novex-3 NM_133379.4:c. N/A Genic Downstream Transcript Variant
TTN transcript variant N2-B NM_003319.4:c.48297delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform N2-B NP_003310.4:p.Phe16100fs D (Asp) > D (Asp) Frameshift
TTN transcript variant N2-A NM_133378.4:c.67788delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform N2-A NP_596869.4:p.Phe22597fs D (Asp) > D (Asp) Frameshift
TTN transcript variant novex-1 NM_133432.3:c.48672delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform novex-1 NP_597676.3:p.Phe16225fs D (Asp) > D (Asp) Frameshift
TTN transcript variant N2BA NM_001256850.1:c.70569delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform N2BA NP_001243779.1:p.Phe235...

NP_001243779.1:p.Phe23524fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant IC NM_001267550.2:c.75492delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform IC NP_001254479.2:p.Phe251...

NP_001254479.2:p.Phe25165fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant novex-2 NM_133437.4:c.48873delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform novex-2 NP_597681.4:p.Phe16292fs D (Asp) > D (Asp) Frameshift
TTN transcript variant X1 XM_017004819.1:c.74385delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X1 XP_016860308.1:p.Phe247...

XP_016860308.1:p.Phe24796fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X4 XM_017004820.1:c.69783delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X4 XP_016860309.1:p.Phe232...

XP_016860309.1:p.Phe23262fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X5 XM_017004821.1:c.69780delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X5 XP_016860310.1:p.Phe232...

XP_016860310.1:p.Phe23261fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X7 XM_017004822.1:c.66822delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X7 XP_016860311.1:p.Phe222...

XP_016860311.1:p.Phe22275fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X10 XM_017004823.1:c.48438delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X10 XP_016860312.1:p.Phe161...

XP_016860312.1:p.Phe16147fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X2 XM_024453094.1:c.69933delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X2 XP_024308862.1:p.Phe233...

XP_024308862.1:p.Phe23312fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X3 XM_024453095.1:c.69930delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X3 XP_024308863.1:p.Phe233...

XP_024308863.1:p.Phe23311fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X6 XM_024453096.1:c.69363delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X6 XP_024308864.1:p.Phe231...

XP_024308864.1:p.Phe23122fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X8 XM_024453097.1:c.66705delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X8 XP_024308865.1:p.Phe222...

XP_024308865.1:p.Phe22236fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X9 XM_024453098.1:c.66624delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X9 XP_024308866.1:p.Phe222...

XP_024308866.1:p.Phe22209fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X11 XM_024453099.1:c.48387delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X11 XP_024308867.1:p.Phe161...

XP_024308867.1:p.Phe16130fs

D (Asp) > D (Asp) Frameshift
TTN transcript variant X12 XM_024453100.1:c.38241delC D [GAC] > D [GA] Coding Sequence Variant
titin isoform X12 XP_024308868.1:p.Phe127...

XP_024308868.1:p.Phe12748fs

D (Asp) > D (Asp) Frameshift
Gene: TTN-AS1, TTN antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTN-AS1 transcript variant 2 NR_038271.1:n. N/A Intron Variant
TTN-AS1 transcript variant 1 NR_038272.1:n. N/A Intron 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: delG (allele ID: 359319 )
ClinVar Accession Disease Names Clinical Significance
RCV000413964.1 not provided Likely-Pathogenic
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").

None
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= delG Note
GRCh38.p12 chr 2 NC_000002.12:g.178570640G= NC_000002.12:g.17857064...

NC_000002.12:g.178570640delG

GRCh37.p13 chr 2 NC_000002.11:g.179435367G= NC_000002.11:g.17943536...

NC_000002.11:g.179435367delG

TTN RefSeqGene (LRG_391) NG_011618.3:g.265163C= NG_011618.3:g.265163delC
TTN transcript variant N2-A NM_133378.4:c.67788C= NM_133378.4:c.67788delC
TTN transcript variant novex-2 NM_133437.4:c.48873C= NM_133437.4:c.48873delC
TTN transcript variant novex-2 NM_133437.3:c.48873C= NM_133437.3:c.48873delC
TTN transcript variant N2-B NM_003319.4:c.48297C= NM_003319.4:c.48297delC
TTN transcript variant novex-1 NM_133432.3:c.48672C= NM_133432.3:c.48672delC
TTN transcript variant IC NM_001267550.2:c.75492C= NM_001267550.2:c.75492delC
TTN transcript variant IC NM_001267550.1:c.75492C= NM_001267550.1:c.75492delC
TTN transcript variant N2BA NM_001256850.1:c.70569C= NM_001256850.1:c.70569delC
TTN-AS1 RefSeqGene NG_051363.1:g.52814G= NG_051363.1:g.52814delG
TTN transcript variant X1 XM_017004819.1:c.74385C= XM_017004819.1:c.74385delC
TTN transcript variant X2 XM_024453094.1:c.69933C= XM_024453094.1:c.69933delC
TTN transcript variant X3 XM_024453095.1:c.69930C= XM_024453095.1:c.69930delC
TTN transcript variant X4 XM_017004820.1:c.69783C= XM_017004820.1:c.69783delC
TTN transcript variant X5 XM_017004821.1:c.69780C= XM_017004821.1:c.69780delC
TTN transcript variant X6 XM_024453096.1:c.69363C= XM_024453096.1:c.69363delC
TTN transcript variant X7 XM_017004822.1:c.66822C= XM_017004822.1:c.66822delC
TTN transcript variant X8 XM_024453097.1:c.66705C= XM_024453097.1:c.66705delC
TTN transcript variant X9 XM_024453098.1:c.66624C= XM_024453098.1:c.66624delC
TTN transcript variant X10 XM_017004823.1:c.48438C= XM_017004823.1:c.48438delC
TTN transcript variant X11 XM_024453099.1:c.48387C= XM_024453099.1:c.48387delC
TTN transcript variant X12 XM_024453100.1:c.38241C= XM_024453100.1:c.38241delC
titin isoform N2-A NP_596869.4:p.Asp22596= NP_596869.4:p.Phe22597fs
titin isoform novex-2 NP_597681.4:p.Asp16291= NP_597681.4:p.Phe16292fs
titin isoform N2-B NP_003310.4:p.Asp16099= NP_003310.4:p.Phe16100fs
titin isoform novex-1 NP_597676.3:p.Asp16224= NP_597676.3:p.Phe16225fs
titin isoform IC NP_001254479.2:p.Asp25164= NP_001254479.2:p.Phe251...

NP_001254479.2:p.Phe25165fs

titin isoform N2BA NP_001243779.1:p.Asp23523= NP_001243779.1:p.Phe235...

NP_001243779.1:p.Phe23524fs

titin isoform X1 XP_016860308.1:p.Asp24795= XP_016860308.1:p.Phe247...

XP_016860308.1:p.Phe24796fs

titin isoform X2 XP_024308862.1:p.Asp23311= XP_024308862.1:p.Phe233...

XP_024308862.1:p.Phe23312fs

titin isoform X3 XP_024308863.1:p.Asp23310= XP_024308863.1:p.Phe233...

XP_024308863.1:p.Phe23311fs

titin isoform X4 XP_016860309.1:p.Asp23261= XP_016860309.1:p.Phe232...

XP_016860309.1:p.Phe23262fs

titin isoform X5 XP_016860310.1:p.Asp23260= XP_016860310.1:p.Phe232...

XP_016860310.1:p.Phe23261fs

titin isoform X6 XP_024308864.1:p.Asp23121= XP_024308864.1:p.Phe231...

XP_024308864.1:p.Phe23122fs

titin isoform X7 XP_016860311.1:p.Asp22274= XP_016860311.1:p.Phe222...

XP_016860311.1:p.Phe22275fs

titin isoform X8 XP_024308865.1:p.Asp22235= XP_024308865.1:p.Phe222...

XP_024308865.1:p.Phe22236fs

titin isoform X9 XP_024308866.1:p.Asp22208= XP_024308866.1:p.Phe222...

XP_024308866.1:p.Phe22209fs

titin isoform X10 XP_016860312.1:p.Asp16146= XP_016860312.1:p.Phe161...

XP_016860312.1:p.Phe16147fs

titin isoform X11 XP_024308867.1:p.Asp16129= XP_024308867.1:p.Phe161...

XP_024308867.1:p.Phe16130fs

titin isoform X12 XP_024308868.1:p.Asp12747= XP_024308868.1:p.Phe127...

XP_024308868.1:p.Phe12748fs

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#.

1 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137342166 Jan 12, 2017 (149)
2 ClinVar RCV000413964.1 Oct 11, 2018 (152)
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
ss2137342166 NC_000002.12:178570639:G= NC_000002.12:178570639:G= (self)
RCV000413964.1, ss2137342166 NC_000002.12:178570639:delG NC_000002.12:178570639:delG (self)
Help

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

No publications for rs1057517937

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: 2.0.1.post58+e54ea20