Variant (rsID / SNP)

rs191312236

rs191312236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DOCK7. Location: chromosome 1, position 62,960,061. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DOCK7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:62960061
Cytoband: 1p31.3
HGVS: NM_001367561.1(DOCK7):c.5102G>A (p.Arg1701Gln)
Allele change: Missense_R1692Q

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 23

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.