NM_000145.3(FSHR):c.566C>T (p.Ala189Val)

Variation ID: Help
16243
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jan 1, 2002
Number of submission(s):
1
Condition(s):
Ovarian dysgenesis 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000145.3(FSHR):c.566C>T (p.Ala189Val)

Allele ID:
31282
Variant type:
single nucleotide variant
Cytogenetic location:
2p16
Genomic location:
  • Chr2: 48983125 (on Assembly GRCh38)
  • Chr2: 49210264 (on Assembly GRCh37)
Protein change:
A189V, A163V
HGVS:
  • NG_008146.1:g.176367C>T
  • NM_000145.3:c.566C>T
  • NM_181446.2:c.488C>T
  • NP_000136.2:p.Ala189Val
  • NP_852111.2:p.Ala163Val
  • NC_000002.12:g.48983125G>A (GRCh38)
  • LRG_536t1:c.566C>T
  • NC_000002.11:g.49210264G>A (GRCh37)
  • LRG_536p1:p.Ala189Val
  • LRG_536:g.176367C>T
Links:
NCBI 1000 Genomes Browser:
rs121909658
Molecular consequence:
NM_000145.3:c.566C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00062 (A)

Variant frequency in dbGaP Help

NM_000145.3(FSHR):c.566C>T (p.Ala189Val)

GRCh37 Chr2:49210264
Called variantsPotential variants
Sample count13 of 509018 of 40864

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 1, 2002)
no assertion criteria providedliterature onlygermlineOMIMSCV000037907.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 7, 2017