Variant (rsID / SNP)

rs121909509

rs121909509 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHRND. Location: chromosome 2, position 233,392,148. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHRNDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:233392148
Cytoband: 2q37.1
HGVS: NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)
Allele change: Silent

Associated conditions / phenotypes

Congenital myasthenic syndrome 3B

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.