Variant (rsID / SNP)

rs41292521

rs41292521 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EPS15. Location: chromosome 1, position 51,873,967. The table records no clinical significance for this variant.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

EPS15Not classified

Variant type: missense_variant
Chromosome / position: 1:51873967
HGVS: NM_001981.3,c.1313C>T,p.Ser438Leu
Allele change: Missense_S124L

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.