ClinVar

NM_025193.4(HSD3B7):c.167-6G>A

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: 30986043 (on Assembly GRCh38)
• Chr16: 30997364 (on Assembly GRCh37)

Preferred name:

NM_025193.4(HSD3B7):c.167-6G>A

HGVS:

• NC_000016.10:g.30986043G>A
• NG_012346.1:g.5846G>A
• NG_052948.1:g.33750G>A
• NM_001142777.2:c.167-6G>A
• NM_001142778.2:c.167-6G>A
• NM_025193.4:c.167-6G>AMANE SELECT
• NC_000016.9:g.30997364G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs794727520

NCBI 1000 Genomes Browser:

rs794727520

Molecular consequence:

• NM_001142777.2:c.167-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142778.2:c.167-6G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_025193.4:c.167-6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

1