NM_003140.2(SRY):c.12T>A (p.Tyr4Ter)

Variation ID: Help
9751
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
May 1, 1997
Number of submission(s):
1
Condition(s):
46,XY sex reversal, type 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003140.2(SRY):c.12T>A (p.Tyr4Ter)

Allele ID:
24790
Variant type:
single nucleotide variant
Cytogenetic location:
Yp11.2
Genomic location:
  • ChrY: 2787592 (on Assembly GRCh38)
  • ChrY: 2655633 (on Assembly GRCh37)
Protein change:
Y4*
HGVS:
  • NG_011751.1:g.5160T>A
  • NM_003140.2:c.12T>A
  • NP_003131.1:p.Tyr4Ter
  • NC_000024.10:g.2787592A>T (GRCh38)
  • NC_000024.9:g.2655633A>T (GRCh37)
  • NM_003140.1:c.12T>A
Links:
NCBI 1000 Genomes Browser:
rs104894975
Molecular consequence:
NM_003140.2:c.12T>A: nonsense [Sequence Ontology SO:0001587]

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
(May 1, 1997)
no assertion criteria providedliterature onlygermlineOMIMSCV000030631.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017