Variant (rsID / SNP)

rs121912669

rs121912669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC5A1. Location: chromosome 22, position 32,439,351. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC5A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:32439351
Cytoband: 22q12.3
HGVS: NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
Allele change: Missense_D28G

Associated conditions / phenotypes

Congenital glucose-galactose malabsorption

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.