ClinVar

NM_025193.4(HSD3B7):c.618C>T (p.Tyr206=)

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: 30986926 (on Assembly GRCh38)
• Chr16: 30998247 (on Assembly GRCh37)

Preferred name:

NM_025193.4(HSD3B7):c.618C>T (p.Tyr206=)

HGVS:

• NC_000016.10:g.30986926C>T
• NG_012346.1:g.6729C>T
• NM_001142777.2:c.531+222C>T
• NM_001142778.2:c.531+222C>T
• NM_025193.3:c.618C>T
• NM_025193.4:c.618C>TMANE SELECT
• NP_079469.2:p.Tyr206=
• NC_000016.9:g.30998247C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001142777.2:c.531+222C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001142778.2:c.531+222C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_025193.4:c.618C>T - synonymous variant - [Sequence Ontology: SO:0001819]