NM_014588.5(VSX1):c.479G>A (p.Gly160Asp)

NM_014588.5(VSX1):c.479G>A (p.Gly160Asp)

Variant type:
single nucleotide variant
Cytogenetic location:
20p11.2
Genomic location:
  • Chr20:25079460 (on Assembly GRCh38)
  • Chr20:25060096 (on Assembly GRCh37)
Protein change:
G160D
HGVS:
  • NG_008101.1:g.7672G>A
  • NM_014588.5:c.479G>A
  • NC_000020.11:g.25079460C>T (GRCh38)
  • NP_055403.2:p.Gly160Asp
  • NR_045948.1:n.762G>A
  • NC_000020.10:g.25060096C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs74315433
Molecular consequence:
  • NM_014588.5:c.479G>A: missense variant SO:0001583
  • NR_045948.1:n.762G>A: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.00215 (T)
  • GMAF 0.00260 (A)

Clinical significance

NM_014588.5(VSX1):c.479G>A (p.Gly160Asp)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Feb 16, 2015)
no assertion criteria providedliterature onlygermlinePubMed (4)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000025742
Pathogenic
(Feb 16, 2015)
no assertion criteria providedliterature onlygermlinePubMed (4)
[See all records that cite these PMIDs]
OMIM

(May 11, 2012)

SCV000045542
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedKeratoconus 1 (not provided)not providednot providedPubMedDash et al. (2010) identified the G160D change in 2 sporadic patients with keratoconus; the variant was not found in 100 controls. Noting that the G16…Full description
OMIMgermlinenot providedPolymorphous corneal dystrophy (not provided)not providednot providedPubMedDash et al. (2010) identified the G160D change in 2 sporadic patients with keratoconus; the variant was not found in 100 controls. Noting that the G16…Full description

Last Updated: Jul 1, 2015