Variant (rsID / SNP)

rs118204109

rs118204109 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMBS. Location: chromosome 11, position 118,962,225. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HMBSPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:118962225
Cytoband: 11q23.3
HGVS: NM_000190.4(HMBS):c.601C>T (p.Arg201Trp)
Allele change: Missense_R201W

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.