Variant (rsID / SNP)

rs17069506

rs17069506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGN. Location: chromosome 18, position 59,821,843. Clinical significance in the table: Benign.

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Reference-table entries

PIGNBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:59821843
Cytoband: 18q21.33
HGVS: NM_176787.5(PIGN):c.484A>G (p.Lys162Glu)
Allele change: Missense_K162E

Associated conditions / phenotypes

History of neurodevelopmental disorder|Multiple congenital anomalies-hypotonia-seizures syndrome 1

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.