RGD:11609664 Rat Genome Database

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Variant: RGD:11609664 -  Homo sapiens

RGD ID: 11609664
RS ID: rs188138947
ClinVar ID: CV305092
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKR1D1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 137,802,719
GRCh38 7 138,117,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023342.1:g.46542A>C
NC_000007.14:g.138117973A>C
NC_000007.13:g.137802719A>C
NM_001190906.2:c.*1311A>C
More...
01/13/2018 3 prime utr variant benign|likely benign Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AKR1D1
Accession:NM_005989
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_001190907
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:NM_001190906
Location:3UTRS;EXON

Gene Symbol:AKR1D1
Accession:XM_047420763
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000371055 CLINVAR
dbSNP (RS) rs188138947 CLINVAR
MedGen C1856127 CLINVAR
NCBI Gene AKR1D1 CLINVAR
OMIM 235555 CLINVAR
  604741 CLINVAR