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Variant (rsID / SNP)

rs147844153

RARS2

rs147844153 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RARS2. Location: chromosome 6, position 88,228,397. 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
6:88228397
Cytoband
6q15
HGVS
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys)
Allele change
Silent

Associated conditions / phenotypes

Pontocerebellar hypoplasia type 6

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.