Variant (rsID / SNP)

rs121912819

rs121912819 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHAT. Location: chromosome 10, position 50,863,185. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHATUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:50863185
Cytoband: 10q11.23
HGVS: NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
Allele change: Missense_R442H

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.