NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg)

Variation ID: Help
6671
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg)

Allele ID:
21710
Variant type:
single nucleotide variant
Cytogenetic location:
2p13
Genomic location:
  • Chr2: 71564074 (on Assembly GRCh38)
  • Chr2: 71791204 (on Assembly GRCh37)
Protein change:
P791R, P809R
HGVS:
  • NG_008694.1:g.115452C>G
  • NM_001130978.1:c.2372C>G
  • NM_001130987.1:c.2426C>G
  • NM_003494.3:c.2372C>G
  • NP_001124450.1:p.Pro791Arg
  • NP_001124459.1:p.Pro809Arg
  • NP_003485.1:p.Pro791Arg
  • NC_000002.12:g.71564074C>G (GRCh38)
  • NC_000002.11:g.71791204C>G (GRCh37)
  • O75923:p.Pro791Arg
Links:
NCBI 1000 Genomes Browser:
rs121908956
Molecular consequence:
NM_003494.3:c.2372C>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_001130978.1(DYSF):c.2372C>G (p.Pro791Arg)

GRCh37 Chr2:71791204
Called variantsPotential variants
Sample countno data0 of 40810

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 8, 2013)
criteria provided, single submitter
clinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000228140.3
Pathogenic
(Nov 8, 2013)
criteria provided, single submitter
clinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000331522.2
Pathogenic
(Nov 8, 2013)
criteria provided, single submitter
clinical testingnot providedgermlineEmory Genetics Laboratory,Emory UniversitySCV000331523.2
Pathogenic
(May 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000027251.3
Pathogenic
(May 1, 1999)
no assertion criteria providedliterature onlygermlineOMIMSCV000027252.3
Pathogenic
(Nov 8, 2013)
no assertion criteria providedclinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000112147.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided4germlinenot providednot provided
Emory Genetics Laboratory,Emory Universitynot provided4germlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 22, 2017