RGD:155999900 Rat Genome Database

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Variant: RGD:155999900 -  Homo sapiens

RGD ID: 155999900
ClinVar ID: CV2149293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 32,815,456
GRCh38 6 32,847,679
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_166t1:c.1741-4T>G
NM_001292022.2:c.1138-4T>G
NM_000593.6:c.1741-4T>G
LRG_1328:g.2257T>G
More... 		02/06/2022 intron variant likely benign 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:TAP1
Accession:NM_000593
Location:INTRON

Gene Symbol:TAP1
Accession:NM_001292022
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002996968 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP1 CLINVAR
OMIM 170260 CLINVAR
  604571 CLINVAR