RGD:405226355 Rat Genome Database

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Variant: RGD:405226355 -  Homo sapiens

RGD ID: 405226355
ClinVar ID: CV3169404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAT  TAT-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 71,604,570
GRCh38 16 71,570,667
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.912+12G>T
NG_008235.1:g.11429G>T
NC_000016.10:g.71570667C>A
NC_000016.9:g.71604570C>A
 06/05/2023 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003864428 CLINVAR
MedGen C0268487 CLINVAR
NCBI Gene TAT CLINVAR
  TAT-AS1 CLINVAR
OMIM 276600 CLINVAR
  613018 CLINVAR