RGD:11645421 Rat Genome Database

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Variant: RGD:11645421 -  Homo sapiens

RGD ID: 11645421
RS ID: rs886055949
ClinVar ID: CV289485
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRD5A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 31,750,133
GRCh38 2 31,525,063
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.60909A>G
NC_000002.12:g.31525063T>C
NC_000002.11:g.31750133T>C
NM_000348.4:c.*1133A>G
More... 		06/14/2016 3 prime utr variant uncertain significance 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; Pseudovaginal perineoscrotal hypospadias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRD5A2
Accession:XM_011533072
Location:3UTRS;EXON

Gene Symbol:SRD5A2
Accession:NM_000348
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265483 CLINVAR
dbSNP (RS) rs886055949 CLINVAR
MedGen C0268297 CLINVAR
NCBI Gene SRD5A2 CLINVAR
OMIM 264600 CLINVAR
  607306 CLINVAR
SNOMED CT 57514000 CLINVAR