Variant (rsID / SNP)

rs1131488

rs1131488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DPAGT1, HMBS. Location: chromosome 11, position 118,962,230. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DPAGT1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:118962230
Cytoband: 11q23.3
HGVS: NM_000190.4(HMBS):c.606G>T (p.Val202=)
Allele change: Synonymous_V202V

Associated conditions / phenotypes

Acute intermittent porphyria|Congenital disorder of glycosylation

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.