Variant (rsID / SNP)

rs587784365

rs587784365 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,365,057. Clinical significance in the table: Pathogenic.

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Reference-table entries

PNKPPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 19:50365057
Cytoband: 19q13.33
HGVS: NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)

Associated conditions / phenotypes

Microcephaly, seizures, and developmental delay|Ataxia - oculomotor apraxia type 4|Developmental and epileptic encephalopathy, 12|Intellectual disability|Abnormality of the nervous system

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.