Variant (rsID / SNP)

rs117451747

rs117451747 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC46A1, SARM1. Location: chromosome 17, position 26,722,890. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC46A1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:26722890
Cytoband: 17q11.2
HGVS: NM_080669.6(SLC46A1):c.*3785T>C
Allele change: Silent

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.