RGD:28888851 Rat Genome Database

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Variant: RGD:28888851 -  Homo sapiens

RGD ID: 28888851
RS ID: rs1194956705
ClinVar ID: CV884784
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRD5A2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 31,750,874
GRCh38 2 31,525,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000348.3:c.*392A>C
NG_008365.1:g.60168A>C
NC_000002.12:g.31525804T>G
NC_000002.11:g.31750874T>G
More...
01/13/2018 3 prime utr variant uncertain significance 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; 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 RCV001138514 CLINVAR
dbSNP (RS) rs1194956705 CLINVAR
MedGen C0268297 CLINVAR
NCBI Gene SRD5A2 CLINVAR
OMIM 264600 CLINVAR
  607306 CLINVAR
SNOMED CT 57514000 CLINVAR