Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs143370729

AARS1

rs143370729 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,289,666. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

AARS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:70289666
Cytoband
16q22.1
HGVS
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly)
Allele change
Missense_R751G

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 29|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease

Public references

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