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Variant (rsID / SNP)

rs375737188

MUSK

rs375737188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,457,698. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MUSKConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
9:113457698
Cytoband
9q31.3
HGVS
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
Allele change
Missense_R125L

Associated conditions / phenotypes

Congenital myasthenic syndrome 4C|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1

Public references

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