RGD:15169810 Rat Genome Database

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Variant: RGD:15169810 -  Homo sapiens

RGD ID: 15169810
RS ID: rs766194831
ClinVar ID: CV731092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAT  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 71,607,432
GRCh38 16 71,573,529
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000353.3:c.408+10A>T
NG_008235.1:g.8567A>T
NC_000016.10:g.71573529T>A
NC_000016.9:g.71607432T>A
More... 		09/06/2018 intron variant likely benign Keratosis palmoplantaris with corneal dystrophy; Oculocutaneous tyrosinemia; Oregon type tyrosinemia; Richner Hanhart syndrome; TAT deficiency; Tyrosine aminotransferase deficiency; Tyrosine transaminase deficiency; Tyrosinemia type 2; Tyrosinosis oculocutaneous type
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TAT
Accession:NM_000353
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000883346 CLINVAR
dbSNP (RS) rs766194831 CLINVAR
MedGen C0268487 CLINVAR
NCBI Gene TAT CLINVAR
OMIM 276600 CLINVAR
  613018 CLINVAR