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Variant (rsID / SNP)

rs62272670

DOK7

rs62272670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOK7. Location: chromosome 4, position 3,475,166. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DOK7Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:3475166
Cytoband
4p16.3
HGVS
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
Allele change
Silent

Associated conditions / phenotypes

Fetal akinesia deformation sequence 1|Fetal akinesia deformation sequence 1|Congenital myasthenic syndrome 10

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.