ClinVar

NM_025193.4(HSD3B7):c.859C>T (p.Arg287Cys)

Gene:

HSD3B7:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30987932 (on Assembly GRCh38)
• Chr16: 30999253 (on Assembly GRCh37)

Preferred name:

NM_025193.4(HSD3B7):c.859C>T (p.Arg287Cys)

HGVS:

• NC_000016.10:g.30987932C>T
• NG_012346.1:g.7735C>T
• NG_041829.1:g.27577G>A
• NM_001142777.2:c.*105C>T
• NM_001142778.2:c.*105C>T
• NM_025193.3:c.859C>T
• NM_025193.4:c.859C>TMANE SELECT
• NP_079469.2:p.Arg287Cys
• NC_000016.9:g.30999253C>T

This HGVS expression did not pass validation

Protein change:

R287C

Links:

dbSNP: rs376499076

NCBI 1000 Genomes Browser:

rs376499076

Molecular consequence:

• NM_001142777.2:c.*105C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001142778.2:c.*105C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_025193.4:c.859C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1