Variant (rsID / SNP)

rs118204101

rs118204101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMBS. Location: chromosome 11, position 118,962,123. Clinical significance in the table: Pathogenic.

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Reference-table entries

HMBSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118962123
Cytoband: 11q23.3
HGVS: NM_000190.4(HMBS):c.499C>T (p.Arg167Trp)
Allele change: Missense_R167W

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.