Variant (rsID / SNP)

rs181546874

rs181546874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to APAF1. Location: chromosome 12, position 99,093,264. Clinical significance in the table: Uncertain significance.

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Reference-table entries

APAF1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:99093264
Cytoband: 12q23.1
HGVS: NM_181861.2(APAF1):c.2383G>C (p.Glu795Gln)
Allele change: Missense_E795Q

Associated conditions / phenotypes

Inborn genetic diseases

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.