Variant (rsID / SNP)

rs189103810

rs189103810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC46A1. Location: chromosome 17, position 26,732,203. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC46A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:26732203
Cytoband: 17q11.2
HGVS: NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)
Allele change: Missense_V171D

Associated conditions / phenotypes

Congenital defect of folate absorption

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.