NM_024921.3(POF1B):c.986G>A (p.Arg329Gln)

Variation ID: Help
10794
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2006
Number of submission(s):
1
Condition(s):
Premature ovarian failure 2b[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_024921.3(POF1B):c.986G>A (p.Arg329Gln)

Allele ID:
25833
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
  • ChrX: 85308188 (on Assembly GRCh38)
  • ChrX: 84563194 (on Assembly GRCh37)
Protein change:
R329Q
HGVS:
  • NG_016358.1:g.76555G>A
  • NM_024921.3:c.986G>A
  • NP_079197.3:p.Arg329Gln
  • NC_000023.11:g.85308188C>T (GRCh38)
  • NC_000023.10:g.84563194C>T (GRCh37)
  • Q8WVV4:p.Arg329Gln
Links:
NCBI 1000 Genomes Browser:
rs75398746
Molecular consequence:
NM_024921.3:c.986G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00407 (T)
  • GMAF 0.00290 (T)
  • ExAC 0.00272 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
(Jul 1, 2006)
no assertion criteria providedliterature onlygermlineOMIMSCV000031773.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017