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Variant (rsID / SNP)

rs201479289

CHAT

rs201479289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,827,789. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHATConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:50827789
Cytoband
10q11.23
HGVS
NM_020549.5(CHAT):c.406G>A (p.Val136Met)
Allele change
Missense_V18M

Associated conditions / phenotypes

Congenital myasthenic syndrome|Familial infantile myasthenia

Public references

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