Variant (rsID / SNP)

rs121912980

rs121912980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALAD. Location: chromosome 9, position 116,153,078. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ALADLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:116153078
Cytoband: 9q32
HGVS: NM_000031.6(ALAD):c.397G>A (p.Gly133Arg)
Allele change: Missense_G125R

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.