RGD:11639137 Rat Genome Database

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Variant: RGD:11639137 -  Homo sapiens

RGD ID: 11639137
RS ID: rs139510844
ClinVar ID: CV273445
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,586,196
GRCh38 X 71,366,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012771.2:g.5083C>T
NC_000023.11:g.71366346C>T
NC_000023.10:g.70586196C>T
NP_004597.2:p.Thr11Ile
More...
01/18/2024 missense variant benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000315951 CLINVAR
  RCV000861836 CLINVAR
  RCV003940064 CLINVAR
dbSNP (RS) rs139510844 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TAF1 CLINVAR
OMIM 313650 CLINVAR