RGD:8640411 Rat Genome Database

Send us a Message



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

Variant: RGD:8640411 -  Homo sapiens

RGD ID: 8640411
RS ID: rs398123545
ClinVar ID: CV99396
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,764,439
GRCh38 X 154,536,224
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000402.4:c.211-46G>A
NG_009015.2:g.16349G>A
NC_000023.11:g.154536224C>T
NC_000023.10:g.153764439C>T
More...
09/14/2012 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:G6PD
Accession:NM_001042351
Location:INTRON

Gene Symbol:G6PD
Accession:NM_000402
Location:INTRON

Gene Symbol:G6PD
Accession:NM_001360016
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000079393 CLINVAR
dbSNP (RS) rs398123545 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene G6PD CLINVAR
OMIM 305900 CLINVAR