Variant (rsID / SNP)

rs121912982

rs121912982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAD. Location: chromosome 9, position 116,151,801. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALADUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:116151801
Cytoband: 9q32
HGVS: NM_000031.6(ALAD):c.718C>T (p.Arg240Trp)
Allele change: Missense_R232W

Associated conditions / phenotypes

Porphobilinogen synthase deficiency

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.