RGD:152105778 Rat Genome Database

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Variant: RGD:152105778 -  Homo sapiens

RGD ID: 152105778
RS ID: rs371552057
ClinVar ID: CV1572609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: H6PD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 9,307,016
GRCh38 1 9,246,957
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282587.2:c.661-9C>G
NG_012218.1:g.17154C>G
NC_000001.11:g.9246957C>G
NM_004285.4:c.628-9C>G
More... 		07/27/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:H6PD
Accession:XM_005263540
Location:INTRON

Gene Symbol:H6PD
Accession:NM_001282587
Location:INTRON

Gene Symbol:H6PD
Accession:XM_017002866
Location:INTRON

Gene Symbol:H6PD
Accession:XM_047435002
Location:INTRON

Gene Symbol:H6PD
Accession:NM_004285
Location:INTRON

Gene Symbol:H6PD
Accession:XM_017002865
Location:INTRON

Gene Symbol:H6PD
Accession:XM_047435003
Location:INTRON

Gene Symbol:H6PD
Accession:XM_047435005
Location:INTRON

Gene Symbol:H6PD
Accession:XM_006711052
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002152378 CLINVAR
dbSNP (RS) rs371552057 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene H6PD CLINVAR
OMIM 138090 CLINVAR