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Variant (rsID / SNP)

rs191391414

HARS1

rs191391414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HARS1. Location: chromosome 5, position 140,058,699. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:140058699
Cytoband
5q31.3
HGVS
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
Allele change
Silent

Associated conditions / phenotypes

Autosomal dominant Charcot-Marie-Tooth disease type 2W|Usher syndrome type 3B

Public references

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