RGD:405141616 Rat Genome Database

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Variant: RGD:405141616 -  Homo sapiens

RGD ID: 405141616
ClinVar ID: CV3054400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIITA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 10,989,230
GRCh38 16 10,895,373
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_49t1:c.144C>T
NM_000246.4:c.144C>T
NM_001286402.1:c.144C>T
NM_001286403.2:c.144C>T
More... 		07/10/2023 non-coding transcript variant likely benign 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 RCV003635897 CLINVAR
MedGen C2931418 CLINVAR
NCBI Gene CIITA CLINVAR
OMIM 209920 CLINVAR
  600005 CLINVAR