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NR_104387.1(TAF1):n.5894C>T

Variation ID: Help
21011
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 18, 2012
Number of submission(s):
1
Condition(s):
Dystonia 3, torsion, X-linked[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NR_104387.1(TAF1):n.5894C>T

Allele ID:
33863
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13
Genomic location:
  • ChrX: 71529785 (on Assembly GRCh38)
  • ChrX: 70749635 (on Assembly GRCh37)
HGVS:
  • NG_012771.2:g.168522C>T
  • NG_015875.1:g.1724C>T
  • NC_000023.11:g.71529785C>T (GRCh38)
  • NR_104388.1:n.5885C>T
  • NC_000023.10:g.70749635C>T (GRCh37)
  • AJ549245.1:c.94C>T
  • CAD70488.1:p.Arg32Cys
Links:
dbSNP: 397509359
NCBI 1000 Genomes Browser:
rs397509359
Molecular consequence:
NR_104388.1:n.5885C>T: non-coding transcript variant [Sequence Ontology SO:0001619]

1 Affected gene

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
(Oct 18, 2012)
no assertion criteria providedliterature onlynot providedGeneReviewsSCV000040365.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 9, 2017