Variant (rsID / SNP)

rs121912821

rs121912821 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,857,664. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHATPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:50857664
Cytoband: 10q11.23
HGVS: NM_020549.5(CHAT):c.1493C>T (p.Ser498Leu)
Allele change: Missense_S380L

Associated conditions / phenotypes

Familial infantile myasthenia

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.