Variant (rsID / SNP)

rs199689080

rs199689080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALG14. Location: chromosome 1, position 95,492,779. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ALG14Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:95492779
Cytoband: 1p21.3
HGVS: NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)
Allele change: Silent

Associated conditions / phenotypes

Congenital myasthenic syndrome 15|Myopathy, epilepsy, and progressive cerebral atrophy

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.