Variant (rsID / SNP)

rs118203994

rs118203994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOK7. Location: chromosome 4, position 3,487,272. 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: 4:3487272
Cytoband: 4p16.3
HGVS: NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)
Allele change: Missense_G36A

Associated conditions / phenotypes

Congenital myasthenic syndrome 10

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.