Variant (rsID / SNP)

rs398122524

rs398122524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC35A3. Location: chromosome 1, position 100,476,969. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC35A3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:100476969
Cytoband: 1p21.2
HGVS: NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)
Allele change: Nonsense_Q172X

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.