Variant (rsID / SNP)

rs3739206

rs3739206 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNKP. Location: chromosome 19, position 50,364,721. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PNKPBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:50364721
Cytoband: 19q13.33
HGVS: NM_007254.4(PNKP):c.1433T>G (p.Val478Gly)
Allele change: Missense_V478G

Associated conditions / phenotypes

Microcephaly, seizures, and developmental delay|Developmental and epileptic encephalopathy, 12|History of neurodevelopmental disorder

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.