RGD:8569537 Rat Genome Database

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Variant: RGD:8569537 -  Homo sapiens

RGD ID: 8569537
RS ID: rs5945206
ClinVar ID: CV45042
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBKG  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,792,168
GRCh38 X 154,563,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_70t1:c.1056-6T>C
NM_001145255.4:c.759-6=
NM_001321397.3:c.1053-6=
NM_001377315.1:c.687-6=
More...
07/09/2018 intron variant benign|uncertain significance neonatal/infancy 1-9 / 100 000 AllHighlyPenetrant; ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY 1; ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY; Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IKBKG
Accession:NM_001099856
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001099857
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001145255
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_003639
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001321396
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001321397
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377312
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377313
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377314
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377315
Location:INTRON

Gene Symbol:IKBKG
Accession:NR_165197
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11590134   PMID:17910706   PMID:19903677  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030048 CLINVAR
  RCV001698947 CLINVAR
  RCV001811209 CLINVAR
dbSNP (RS) rs5945206 CLINVAR
MedGen C1846008 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene IKBKG CLINVAR
OMIM 300248 CLINVAR
  300291 CLINVAR