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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.

rs786205081

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr2:71669672-71669673 (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
delG
Variation Type
Indel Insertion and Deletion
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
DYSF : Frameshift
Publications
2 citations
Genomic View
See rs on genome
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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 2 NC_000002.12:g.71669673delG
GRCh37.p13 chr 2 NC_000002.11:g.71896803delG
DYSF RefSeqGene NG_008694.1:g.221051delG
Gene: DYSF, dysferlin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DYSF transcript variant 8 NM_003494.3:c.559...

NM_003494.3:c.5594delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 8 NP_003485.1:p.Gly...

NP_003485.1:p.Gly1865fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 9 NM_001130976.1:c....

NM_001130976.1:c.5552delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 9 NP_001124448.1:p....

NP_001124448.1:p.Gly1851fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 10 NM_001130977.1:c....

NM_001130977.1:c.5615delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 10 NP_001124449.1:p....

NP_001124449.1:p.Gly1872fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 11 NM_001130978.1:c....

NM_001130978.1:c.5657delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 11 NP_001124450.1:p....

NP_001124450.1:p.Gly1886fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 12 NM_001130979.1:c....

NM_001130979.1:c.5687delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 12 NP_001124451.1:p....

NP_001124451.1:p.Gly1896fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 13 NM_001130980.1:c....

NM_001130980.1:c.5645delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 13 NP_001124452.1:p....

NP_001124452.1:p.Gly1882fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 14 NM_001130981.1:c....

NM_001130981.1:c.5708delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 14 NP_001124453.1:p....

NP_001124453.1:p.Gly1903fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 7 NM_001130982.1:c....

NM_001130982.1:c.5690delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 7 NP_001124454.1:p....

NP_001124454.1:p.Gly1897fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 6 NM_001130983.1:c....

NM_001130983.1:c.5660delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 6 NP_001124455.1:p....

NP_001124455.1:p.Gly1887fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 5 NM_001130984.1:c....

NM_001130984.1:c.5618delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 5 NP_001124456.1:p....

NP_001124456.1:p.Gly1873fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 4 NM_001130985.1:c....

NM_001130985.1:c.5648delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 4 NP_001124457.1:p....

NP_001124457.1:p.Gly1883fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 3 NM_001130986.1:c....

NM_001130986.1:c.5555delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 3 NP_001124458.1:p....

NP_001124458.1:p.Gly1852fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 1 NM_001130987.1:c....

NM_001130987.1:c.5711delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 1 NP_001124459.1:p....

NP_001124459.1:p.Gly1904fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant 2 NM_001130455.1:c....

NM_001130455.1:c.5597delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform 2 NP_001123927.1:p....

NP_001123927.1:p.Gly1866fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant X1 XM_005264584.4:c....

XM_005264584.4:c.5753delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform X1 XP_005264641.1:p....

XP_005264641.1:p.Gly1918fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant X2 XM_005264585.4:c....

XM_005264585.4:c.5750delG

G [GGC] > A [GC] Coding Sequence Variant
dysferlin isoform X2 XP_005264642.1:p....

XP_005264642.1:p.Gly1917fs

G (Gly) > A (Ala) Frameshift
DYSF transcript variant X3 XR_001738969.1: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: delG (allele ID: 21705 )
ClinVar Accession Disease Names Clinical Significance
RCV000007048.4 Myopathy, distal, with anterior tibial onset 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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
The Genome Aggregation Database Global Study-wide 246272 -

No frequency provided

delG=0.00000
The Genome Aggregation Database European Sub 134020 -

No frequency provided

delG=0.00001
The Genome Aggregation Database Asian Sub 48030 -

No frequency provided

delG=0.0000
The Genome Aggregation Database American Sub 33582 -

No frequency provided

delG=0.0000
The Genome Aggregation Database African Sub 15304 -

No frequency provided

delG=0.0000
The Genome Aggregation Database Ashkenazi Jewish Sub 9850 -

No frequency provided

delG=0.000
The Genome Aggregation Database Other Sub 5486 -

No frequency provided

delG=0.000
Trans-Omics for Precision Medicine Global Study-wide 125568 -

No frequency provided

delG=0.00001
The Exome Aggregation Consortium Global Study-wide 121410 -

No frequency provided

delG=0.00001
The Exome Aggregation Consortium Europe Sub 73352 -

No frequency provided

delG=0.0000
The Exome Aggregation Consortium Asian Sub 25166 -

No frequency provided

delG=0.0000
The Exome Aggregation Consortium American Sub 11578 -

No frequency provided

delG=0.0000
The Exome Aggregation Consortium African Sub 10406 -

No frequency provided

delG=0.0000
The Exome Aggregation Consortium Other Sub 908 -

No frequency provided

delG=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 GG= delG Note
GRCh38.p7 chr 2 NC_000002.12:g.71669672...

NC_000002.12:g.71669672_71669673GG=

NC_000002.12:g.71669673...

NC_000002.12:g.71669673delG

GRCh37.p13 chr 2 NC_000002.11:g.71896802...

NC_000002.11:g.71896802_71896803GG=

NC_000002.11:g.71896803...

NC_000002.11:g.71896803delG

DYSF RefSeqGene NG_008694.1:g.221050_22...

NG_008694.1:g.221050_221051GG=

NG_008694.1:g.221051delG
DYSF transcript variant 8 NM_003494.3:c.5593_5594GG= NM_003494.3:c.5594delG
DYSF transcript variant 14 NM_001130981.1:c.5707_5...

NM_001130981.1:c.5707_5708GG=

NM_001130981.1:c.5708delG
DYSF transcript variant 12 NM_001130979.1:c.5686_5...

NM_001130979.1:c.5686_5687GG=

NM_001130979.1:c.5687delG
DYSF transcript variant 11 NM_001130978.1:c.5656_5...

NM_001130978.1:c.5656_5657GG=

NM_001130978.1:c.5657delG
DYSF transcript variant 13 NM_001130980.1:c.5644_5...

NM_001130980.1:c.5644_5645GG=

NM_001130980.1:c.5645delG
DYSF transcript variant 10 NM_001130977.1:c.5614_5...

NM_001130977.1:c.5614_5615GG=

NM_001130977.1:c.5615delG
DYSF transcript variant 9 NM_001130976.1:c.5551_5...

NM_001130976.1:c.5551_5552GG=

NM_001130976.1:c.5552delG
DYSF transcript variant 1 NM_001130987.1:c.5710_5...

NM_001130987.1:c.5710_5711GG=

NM_001130987.1:c.5711delG
DYSF transcript variant 7 NM_001130982.1:c.5689_5...

NM_001130982.1:c.5689_5690GG=

NM_001130982.1:c.5690delG
DYSF transcript variant 6 NM_001130983.1:c.5659_5...

NM_001130983.1:c.5659_5660GG=

NM_001130983.1:c.5660delG
DYSF transcript variant 4 NM_001130985.1:c.5647_5...

NM_001130985.1:c.5647_5648GG=

NM_001130985.1:c.5648delG
DYSF transcript variant 5 NM_001130984.1:c.5617_5...

NM_001130984.1:c.5617_5618GG=

NM_001130984.1:c.5618delG
DYSF transcript variant 2 NM_001130455.1:c.5596_5...

NM_001130455.1:c.5596_5597GG=

NM_001130455.1:c.5597delG
DYSF transcript variant 3 NM_001130986.1:c.5554_5...

NM_001130986.1:c.5554_5555GG=

NM_001130986.1:c.5555delG
DYSF transcript variant X2 XM_005264585.4:c.5749_5...

XM_005264585.4:c.5749_5750GG=

XM_005264585.4:c.5750delG
DYSF transcript variant X2 XM_005264585.1:c.5749_5...

XM_005264585.1:c.5749_5750GG=

XM_005264585.1:c.5750delG
DYSF transcript variant X1 XM_005264584.4:c.5752_5...

XM_005264584.4:c.5752_5753GG=

XM_005264584.4:c.5753delG
DYSF transcript variant X1 XM_005264584.1:c.5752_5...

XM_005264584.1:c.5752_5753GG=

XM_005264584.1:c.5753delG
dysferlin isoform 8 NP_003485.1:p.Gly1865= NP_003485.1:p.Gly1865fs
dysferlin isoform 14 NP_001124453.1:p.Gly1903= NP_001124453.1:p.Gly1903fs
dysferlin isoform 12 NP_001124451.1:p.Gly1896= NP_001124451.1:p.Gly1896fs
dysferlin isoform 11 NP_001124450.1:p.Gly1886= NP_001124450.1:p.Gly1886fs
dysferlin isoform 13 NP_001124452.1:p.Gly1882= NP_001124452.1:p.Gly1882fs
dysferlin isoform 10 NP_001124449.1:p.Gly1872= NP_001124449.1:p.Gly1872fs
dysferlin isoform 9 NP_001124448.1:p.Gly1851= NP_001124448.1:p.Gly1851fs
dysferlin isoform 1 NP_001124459.1:p.Gly1904= NP_001124459.1:p.Gly1904fs
dysferlin isoform 7 NP_001124454.1:p.Gly1897= NP_001124454.1:p.Gly1897fs
dysferlin isoform 6 NP_001124455.1:p.Gly1887= NP_001124455.1:p.Gly1887fs
dysferlin isoform 4 NP_001124457.1:p.Gly1883= NP_001124457.1:p.Gly1883fs
dysferlin isoform 5 NP_001124456.1:p.Gly1873= NP_001124456.1:p.Gly1873fs
dysferlin isoform 2 NP_001123927.1:p.Gly1866= NP_001123927.1:p.Gly1866fs
dysferlin isoform 3 NP_001124458.1:p.Gly1852= NP_001124458.1:p.Gly1852fs
dysferlin isoform X2 XP_005264642.1:p.Gly1917= XP_005264642.1:p.Gly1917fs
dysferlin isoform X1 XP_005264641.1:p.Gly1918= XP_005264641.1:p.Gly1918fs
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, 5 SubSNP, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1711677210 Apr 01, 2015 (136)
2 CLINVAR ss1751114555 May 21, 2015 (144)
3 GNOMAD ss2732739045 Nov 08, 2017 (151)
4 ILLUMINA ss3021983509 Nov 08, 2017 (151)
5 TOPMED ss3311650972 Nov 08, 2017 (151)
6 The Exome Aggregation Consortium NC_000002.11 - 71896802 Jul 19, 2018 (151)
7 The Genome Aggregation Database NC_000002.11 - 71896802 Jul 19, 2018 (151)
8 Trans-Omics for Precision Medicine NC_000002.12 - 71669672 Jul 19, 2018 (151)
9 ClinVar RCV000007048.4 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)
rs766993624 Feb 27, 2017 (136)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
6229950, 1753780, ss1711677210, ss2732739045, ss3021983509 NC_000002.11:71896801:delG NC_000002.12:71669671:delG (self) , rs1234110998
196206297, ss3311650972 NC_000002.12:71669671:delG NC_000002.12:71669671:delG rs1234110998
RCV000007048.4, ss1751114555 NC_000002.12:71669672:delG NC_000002.12:71669671:delG (self)
Help

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

2 citations for rs786205081
PMID Title Author Year Journal
9731526 Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu J et al. 1998 Nature genetics
11198284 Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Illa I et al. 2001 Annals of neurology

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