ClinVar

NM_000348.4(SRD5A2):c.548-2A>C

Gene:

SRD5A2:steroid 5 alpha-reductase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.1

Genomic location:

• Chr2: 31529459 (on Assembly GRCh38)
• Chr2: 31754529 (on Assembly GRCh37)

Preferred name:

NM_000348.4(SRD5A2):c.548-2A>C

HGVS:

• NC_000002.12:g.31529459T>G
• NG_008365.1:g.56513A>C
• NG_008365.2:g.138550A>C
• NM_000348.4:c.548-2A>CMANE SELECT
• NC_000002.11:g.31754529T>G
• NM_000348.3:c.548-2A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs61750397

NCBI 1000 Genomes Browser:

rs61750397

Molecular consequence:

• NM_000348.4:c.548-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]