RGD:402500354 Rat Genome Database

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Variant: RGD:402500354 -  Homo sapiens

RGD ID: 402500354
ClinVar ID: CV2889290
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 32,797,867
GRCh38 6 32,830,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_167t1:c.1636-1G>A
LRG_167t2:c.1636-1G>A
NM_001290043.2:c.1636-1G>A
NM_018833.3:c.1636-1G>A
More... 		12/14/2022 splice acceptor variant pathogenic Bare lymphocyte syndrome type 1; BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I; HLA CLASS I DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TAP2
Accession:NM_018833
Location:INTRON

Gene Symbol:TAP2
Accession:NM_001290043
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7517574   PMID:11529920   PMID:12067308   PMID:16199547   PMID:23662797   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003508649 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP2 CLINVAR
OMIM 170261 CLINVAR
  604571 CLINVAR