RGD:152089905 Rat Genome Database

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Variant: RGD:152089905 -  Homo sapiens

RGD ID: 152089905
RS ID: rs2145230300
ClinVar ID: CV1593943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAT  TAT-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 71,603,820
GRCh38 16 71,569,917
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.1062T>C
NG_008235.1:g.12179T>C
NC_000016.10:g.71569917A>G
NC_000016.9:g.71603820A>G
More... 		05/12/2021 synonymous 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:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVRPSDMAKKTFNPIRAIVDNMKVKPNPNKTMISLSIGD
PTVFGNLPTDPEVTQAMKDALDSGKYNGYAPSIGFLSSREEIASYYHCPEAPLEAKDVILTSGCSQAIDLCLAVLANPGQ
NILVPRPGFSLYKTLAESMGIEVKLYNLLPEKSWEIDLKQLEYLIDEKTACLIVNNPSNPCGSVFSKRHLQKILAVAARQ
CVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCGGLAKRWLVPGWRLGWILIHDRRDIFGNEIRDGLVKLSQRILGPC
TIVQGALKSILCRTPGEFYHNTLSFLKSNADLC*GALAAIPGLRPVRPSGAMYLMVGIEMEHFPEFENDVEFTERLVAEQ
SVHCLPATCFEYPNFIRVVITVPEVMMLEACSRIQEFCEQHYHCAEGSQEECDK*

Gene Symbol:TAT-AS1
Accession:NR_103852
Location:INTRON;NON-CODING

Gene Symbol:TAT-AS1
Accession:NR_103851
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002171685 CLINVAR
dbSNP (RS) rs2145230300 CLINVAR
MedGen C0268487 CLINVAR
NCBI Gene TAT CLINVAR
  TAT-AS1 CLINVAR
OMIM 276600 CLINVAR
  613018 CLINVAR