Variant (rsID / SNP)

rs121912984

rs121912984 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAD. Location: chromosome 9, position 116,155,804. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ALADConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 9:116155804
Cytoband: 9q32
HGVS: NM_000031.6(ALAD):c.36C>G (p.Phe12Leu)
Allele change: Missense_F21L

Associated conditions / phenotypes

Porphyria, acute hepatic, digenic

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.