Variant (rsID / SNP)

rs141127966

rs141127966 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,870,745. Clinical significance in the table: Likely benign.

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Reference-table entries

CHATLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:50870745
Cytoband: 10q11.23
HGVS: NM_020549.5(CHAT):c.1894C>T (p.Arg632Trp)
Allele change: Missense_R514W

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.