Variant (rsID / SNP)

rs141952252

rs141952252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC35A3. Location: chromosome 1, position 100,483,370. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC35A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:100483370
Cytoband: 1p21.2
HGVS: NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)
Allele change: Missense_S296G

Associated conditions / phenotypes

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

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.