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Variant (rsID / SNP)

rs199476083

MUSK

rs199476083 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,563,026. 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
9:113563026
Cytoband
9q31.3
HGVS
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
Allele change
Missense_V790M

Associated conditions / phenotypes

Congenital myasthenic syndrome 9|Congenital myasthenic syndrome 9|Fetal akinesia deformation sequence 1|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.