ClinVar

NM_000781.3(CYP11A1):c.991-5A>C

Gene:

CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q24.1

Genomic location:

• Chr15: 74339758 (on Assembly GRCh38)
• Chr15: 74632099 (on Assembly GRCh37)

Preferred name:

NM_000781.3(CYP11A1):c.991-5A>C

HGVS:

• NC_000015.10:g.74339758T>G
• NG_007973.1:g.32984A>C
• NG_007973.2:g.32888A>C
• NM_000781.3:c.991-5A>CMANE SELECT
• NM_001099773.2:c.517-5A>C
• NC_000015.9:g.74632099T>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_000781.3:c.991-5A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099773.2:c.517-5A>C - intron variant - [Sequence Ontology: SO:0001627]