Variant (rsID / SNP)

rs786205157

rs786205157 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AARS1. Location: chromosome 16, position 70,310,960. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

AARS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:70310960
Cytoband: 16q22.1
HGVS: NM_001605.3(AARS1):c.242A>C (p.Lys81Thr)
Allele change: Missense_K81T

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 29

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.