Variant (rsID / SNP)

rs117447044

rs117447044 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC10A2. Location: chromosome 13, position 103,710,685. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC10A2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:103710685
Cytoband: 13q33.1
HGVS: NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu)
Allele change: Missense_P142L

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.