Variant (rsID / SNP)

rs121912611

rs121912611 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SI. Location: chromosome 3, position 164,737,520. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SIPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:164737520
Cytoband: 3q26.1
HGVS: NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)
Allele change: Missense_Q1098P

Associated conditions / phenotypes

Sucrase-isomaltase deficiency

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.