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Variant (rsID / SNP)

rs201272488

YARS1

rs201272488 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to YARS1. Location: chromosome 1, position 33,272,073. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

YARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:33272073
Cytoband
1p35.1
HGVS
NM_003680.4(YARS1):c.510+10G>C
Allele change
Silent

Associated conditions / phenotypes

Charcot-Marie-Tooth, Intermediate|Charcot-Marie-Tooth disease dominant intermediate C

Public references

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