RGD:8643969 Rat Genome Database

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Variant: RGD:8643969 -  Homo sapiens

RGD ID: 8643969
RS ID: rs1042578
ClinVar ID: CV103311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRD5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 31,749,714
GRCh38 2 31,524,644
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008365.1:g.61328G>A
NC_000002.12:g.31524644C>T
NC_000002.11:g.31749714C>T
NM_000348.4:c.*1552G>A
More... 		06/14/2016 3 prime utr variant benign|not provided adolescent 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Familial incomplete male pseudohermaphroditism, type 2; Male pseudohermaphroditism due to 5-alpha-reductase deficiency; none provided; Pseudovaginal perineoscrotal hypospadias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRD5A2
Accession:NM_000348
Location:3UTRS;EXON

Gene Symbol:SRD5A2
Accession:XM_011533072
Location:3UTRS;EXON

Gene Symbol:SRD5A2
Accession:XM_011533069
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000083670 CLINVAR
  RCV000392570 CLINVAR
dbSNP (RS) rs1042578 CLINVAR
MedGen C0268297 CLINVAR
  C3661900 CLINVAR
NCBI Gene SRD5A2 CLINVAR
OMIM 264600 CLINVAR
  607306 CLINVAR
SNOMED CT 57514000 CLINVAR