Variant (rsID / SNP)

rs751889864

rs751889864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MUSK. Location: chromosome 9, position 113,547,944. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MUSKLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:113547944
Cytoband: 9q31.3
HGVS: NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
Allele change: Missense_I575T

Associated conditions / phenotypes

Fetal akinesia deformation sequence 1|Respiratory insufficiency|Stridor|Delayed gross motor development|Bilateral ptosis

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.