Variant (rsID / SNP)

rs578430

rs578430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,563,143. Clinical significance in the table: Benign.

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Reference-table entries

MUSKBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:113563143
Cytoband: 9q31.3
HGVS: NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
Allele change: Missense_V829L

Associated conditions / phenotypes

Congenital myasthenic syndrome 9|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.