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Variant (rsID / SNP)

rs72913293

DOCK7

rs72913293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK7. Location: chromosome 1, position 63,085,630. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DOCK7Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:63085630
Cytoband
1p31.3
HGVS
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)
Allele change
Missense_K487R

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 23

Public references

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