Variant (rsID / SNP)

rs8802

rs8802 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS2, SLC35A1. Location: chromosome 6, position 88,224,164. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RARS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 6:88224164
Cytoband: 6q15
HGVS: NM_020320.5(RARS2):c.1704A>G (p.Lys568=)
Allele change: Silent

Associated conditions / phenotypes

Congenital disorder of glycosylation|Pontoneocerebellar hypoplasia|Pontocerebellar hypoplasia type 6

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.