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Variant (rsID / SNP)

rs118203995

DOK7

rs118203995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOK7. Location: chromosome 4, position 3,487,334. Clinical significance in the table: Pathogenic.

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Reference-table entries

DOK7Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:3487334
Cytoband
4p16.3
HGVS
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter)
Allele change
Nonsense_R57X

Associated conditions / phenotypes

Congenital myasthenic syndrome 10|Congenital myasthenic syndrome 10|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.