Variant (rsID / SNP)

rs199811263

rs199811263 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,562,609. Clinical significance in the table: Likely benign.

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Reference-table entries

MUSKLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 9:113562609
Cytoband: 9q31.3
HGVS: NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)
Allele change: Missense_M651L

Associated conditions / phenotypes

Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 9

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.