RGD:13788354 Rat Genome Database

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Variant: RGD:13788354 -  Homo sapiens

RGD ID: 13788354
RS ID: rs1555538138
ClinVar ID: CV548535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 71,609,823
GRCh38 16 71,575,920
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008235.1:g.6176T>C
NC_000016.10:g.71575920A>G
NC_000016.9:g.71609823A>G
NM_000353.3:c.340+2T>C
More... 		01/31/2017 splice donor variant likely pathogenic 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 Information

Database Acc Id Source(s)
ClinVar RCV000665328 CLINVAR
dbSNP (RS) rs1555538138 CLINVAR
MedGen C0268487 CLINVAR
NCBI Gene TAT CLINVAR
OMIM 276600 CLINVAR
  613018 CLINVAR