Variant (rsID / SNP)

rs267607194

rs267607194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KARS1. Location: chromosome 16, position 75,674,156. Clinical significance in the table: Pathogenic.

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Reference-table entries

KARS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:75674156
Cytoband: 16q23.1
HGVS: NM_005548.3(KARS1):c.314T>A (p.Leu105His)
Allele change: Missense_L133H

Associated conditions / phenotypes

Charcot-Marie-Tooth disease recessive intermediate B

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.