ClinVar

NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)

Gene:

CYP11B1:cytochrome P450 family 11 subfamily B member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 142879690 (on Assembly GRCh38)
• Chr8: 143961106 (on Assembly GRCh37)

Preferred name:

NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)

HGVS:

• NC_000008.11:g.142879690G>A
• NG_007954.1:g.5131C>T
• NG_055454.1:g.68G>A
• NM_000497.4:c.124C>TMANE SELECT
• NM_001026213.1:c.124C>T
• NP_000488.3:p.Pro42Ser
• NP_000488.3:p.Pro42Ser
• NP_001021384.1:p.Pro42Ser
• NC_000008.10:g.143961106G>A
• NM_000497.3:c.124C>T
• P15538:p.Pro42Ser

This HGVS expression did not pass validation

Protein change:

P42S; PRO42SER

Links:

UniProtKB: P15538#VAR_001260; OMIM: 610613.0009; dbSNP: rs104894069

NCBI 1000 Genomes Browser:

rs104894069

Molecular consequence:

• NM_000497.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001026213.1:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]