Variant (rsID / SNP)

rs200783529

rs200783529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,431,265. Clinical significance in the table: Pathogenic.

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Reference-table entries

MUSKPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:113431265
Cytoband: 9q31.3
HGVS: NM_005592.4(MUSK):c.79+2T>G
Allele change: Silent

Associated conditions / phenotypes

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

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.