RGD:405139578 Rat Genome Database

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Variant: RGD:405139578 -  Homo sapiens

RGD ID: 405139578
ClinVar ID: CV2933300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBKB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,146,172
GRCh38 8 42,288,654
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1241t1:c.126C>T
NM_001190720.3:c.-67C>T
NM_001556.3:c.126C>T
NM_001242778.2:c.24-1502C>T
More... 		10/23/2023 5 prime utr variant likely benign Immunodeficiency 15; IMMUNODEFICIENCY 15B
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 RCV003584002 CLINVAR
MedGen C4747743 CLINVAR
NCBI Gene IKBKB CLINVAR
OMIM 603258 CLINVAR
  615592 CLINVAR