Variant (rsID / SNP)

rs193922538

rs193922538 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP11B1. Location: chromosome 8, position 143,961,105. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CYP11B1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:143961105
Cytoband: 8q24.3
HGVS: NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
Allele change: Missense_P42L

Associated conditions / phenotypes

Congenital adrenal hyperplasia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.