RGD:405095050 Rat Genome Database

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Variant: RGD:405095050 -  Homo sapiens

RGD ID: 405095050
ClinVar ID: CV2949503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBKB  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,146,264
GRCh38 8 42,288,746
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1241t1:c.200+18A>T
NM_001556.3:c.200+18A>T
NM_001242778.2:c.24-1410A>T
NM_001190720.3:c.8+18A>T
More... 		03/15/2023 intron variant likely benign Immunodeficiency 15; IMMUNODEFICIENCY 15B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IKBKB
Accession:NM_001556
Location:INTRON

Gene Symbol:IKBKB
Accession:NM_001242778
Location:INTRON

Gene Symbol:IKBKB
Accession:NM_001190720
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_011544517
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_011544520
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421762
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421758
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421764
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421757
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421760
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421761
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421759
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421763
Location:INTRON

Gene Symbol:IKBKB
Accession:NR_033818
Location:INTRON;NON-CODING

Gene Symbol:IKBKB
Accession:NR_033819
Location:INTRON;NON-CODING

Gene Symbol:IKBKB
Accession:NR_040009
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003745766 CLINVAR
MedGen C4747743 CLINVAR
NCBI Gene IKBKB CLINVAR
OMIM 603258 CLINVAR
  615592 CLINVAR