Variant (rsID / SNP)

rs142348911

rs142348911 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS2. Location: chromosome 6, position 88,224,688. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RARS2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 6:88224688
Cytoband: 6q15
HGVS: NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu)
Allele change: Silent

Associated conditions / phenotypes

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.