RGD:405140173 Rat Genome Database

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Variant: RGD:405140173 -  Homo sapiens

RGD ID: 405140173
ClinVar ID: CV3039979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 11,001,309
GRCh38 16 10,907,452
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_49t1:c.1960C>G
NM_001379331.1:c.1813C>G
NM_001379330.1:c.1816C>G
NM_001379334.1:c.1891C>G
More... 		10/05/2023 intron variant uncertain significance Bare Lymphocyte Syndrome; Bare lymphocyte syndrome 2; BARE LYMPHOCYTE SYNDROME, TYPE II; BLS 2; BLS, TYPE II; SCID, HLA Class 2-Negative; SCID, HLA CLASS II-NEGATIVE; Severe combined immunodeficiency, HLA class II negative
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 RCV003635757 CLINVAR
MedGen C2931418 CLINVAR
NCBI Gene CIITA CLINVAR
OMIM 209920 CLINVAR
  600005 CLINVAR