RGD:13522473 Rat Genome Database

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Variant: RGD:13522473 -  Homo sapiens

RGD ID: 13522473
RS ID: rs916587979
ClinVar ID: CV491832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 137,761,358
GRCh38 7 138,076,612
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190906.2:c.93+1G>T
NG_023342.1:g.5181G>T
NC_000007.14:g.138076612G>T
NM_005989.4:c.93+1G>T
More... 		02/08/2017 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:AKR1D1
Accession:NM_001190906
Location:INTRON

Gene Symbol:AKR1D1
Accession:NM_005989
Location:INTRON

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:INTRON

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000591781 CLINVAR
dbSNP (RS) rs916587979 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 604741 CLINVAR