Variant (rsID / SNP)

rs201909197

rs201909197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HMBS. Location: chromosome 11, position 118,963,199. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HMBSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:118963199
Cytoband: 11q23.3
HGVS: NM_000190.4(HMBS):c.737G>A (p.Arg246His)
Allele change: Missense_R246H

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.