RGD:405162713 Rat Genome Database

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Variant: RGD:405162713 -  Homo sapiens

RGD ID: 405162713
ClinVar ID: CV3016207
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAP2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 32,797,777
GRCh38 6 32,830,000
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_167t1:c.1725G>A
LRG_167t2:c.1725G>A
NM_000544.3:c.1725G>A
NM_001290043.2:c.1725G>A
More... 		04/03/2023 synonymous 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003621317 CLINVAR
MedGen C1858266 CLINVAR
NCBI Gene TAP2 CLINVAR
OMIM 170261 CLINVAR
  604571 CLINVAR