Variant (rsID / SNP)

rs118204120

rs118204120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMBS. Location: chromosome 11, position 118,960,922. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HMBSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118960922
Cytoband: 11q23.3
HGVS: NM_000190.4(HMBS):c.445C>T (p.Arg149Ter)
Allele change: Nonsense_R149X

Associated conditions / phenotypes

Acute intermittent porphyria

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.