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NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) AND Deficiency of steroid 11-beta-monooxygenase

Significance: Pathogenic
ClinVar: RCV000001246

Variant: NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp)

Type: Variant
Allele: NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) 16226
Gene:
Type: single nucleotide variant
Location: Chr8: 143957146 - assembly GRCh37
Chr8: 142875730 - assembly GRCh38
References: dbSNP: 104894071
OMIM: 610613.0017
UniProtKB: P15538#VAR_074522

Condition

Disease: Deficiency of steroid 11-beta-monooxygenase

Citation

    For discussion of the ala368-to-asp (A368D) mutation in the CYP11B1 gene that was found in compound heterozygous state in a boy with CAH due to steroid 11-beta-hydroxylase deficiency (202010) by Krone et al. (2006), see 610613.0016.
PMID:16670167