RGD:127231642 Rat Genome Database

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Variant: RGD:127231642 -  Homo sapiens

RGD ID: 127231642
RS ID: rs782468778
ClinVar ID: CV1086487
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  LOC127898544  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 153,762,382
GRCh38 X 154,534,167
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.735-7C>T
NG_009015.2:g.18406C>T
NC_000023.11:g.154534167G>A
NM_001360016.2:c.645-7C>T
More... 		06/12/2020 intron variant likely benign Class I glucose-6-phosphate dehydrogenase deficiency; Favism, susceptibility to; Hemolytic anemia due to G6PD deficiency
Disease Annotations     Click to see Annotation Detail View
favism  (IAGP)


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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001395411 CLINVAR
dbSNP (RS) rs782468778 CLINVAR
MedGen C2720289 CLINVAR
NCBI Gene G6PD CLINVAR
OMIM 300908 CLINVAR
  305900 CLINVAR