RGD:11621446 Rat Genome Database

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Variant: RGD:11621446 -  Homo sapiens

RGD ID: 11621446
RS ID: rs371975183
ClinVar ID: CV343883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAT  TAT-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 71,603,792
GRCh38 16 71,569,889
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.12207C>T
NC_000016.10:g.71569889G>A
NC_000016.9:g.71603792G>A
NP_000344.1:p.Arg364Trp
More... 		05/21/2022 missense variant uncertain significance 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: R to R (synonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPYMIQMSSKGNLPSILDVHVNVGGRSSVPGKMKGRKARWSVRPSDMAKKTFNPIRAIVDNMKVKPNPNKTMISLSIGD
PTVFGNLPTDPEVTQAMKDALDSGKYNGYAPSIGFLSSREEIASYYHCPEAPLEAKDVILTSGCSQAIDLCLAVLANPGQ
NILVPRPGFSLYKTLAESMGIEVKLYNLLPEKSWEIDLKQLEYLIDEKTACLIVNNPSNPCGSVFSKRHLQKILAVAARQ
CVPILADEIYGDMVFSDCKYEPLATLSTDVPILSCGGLAKRWLVPGWRLGWILIHDRRDIFGNEIRDGLVKLSQRILGPC
TIVQGALKSILCRTPGEFYHNTLSFLKSNADLCYGALAAIPGLRPVRPSGAMYLMVGIEMEHFPEFENDVEFTERLVAEQ
SVHCLPATCFEYPNFIRVVITVPEVMMLEACSRIQEFCEQHYHCAEGSQEECDK*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000348549 CLINVAR
dbSNP (RS) rs371975183 CLINVAR
MedGen C0268487 CLINVAR
NCBI Gene TAT CLINVAR
  TAT-AS1 CLINVAR
OMIM 276600 CLINVAR
  613018 CLINVAR