RGD:13483823 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:13483823 -  Homo sapiens

RGD ID: 13483823
RS ID: rs1557236929
ClinVar ID: CV446592
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBKG  LOC127898546  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,792,676
GRCh38 X 154,564,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003639.4:c.1260G>C
LRG_70:g.27218G>C
NC_000023.11:g.154564461G>C
NM_003639.3:c.1260G>C
More...
05/10/2018 non-coding transcript variant|stop lost likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:IKBKG
Accession:NM_001377313
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001377314
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001099856
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001377315
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001099857
Location:EXON

Gene Symbol:IKBKG
Accession:NM_003639
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001321397
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001321396
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001145255
Location:EXON

Gene Symbol:IKBKG
Accession:NM_001377312
Location:EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000522162 CLINVAR
dbSNP (RS) rs1557236929 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IKBKG CLINVAR
OMIM 300248 CLINVAR