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Variant (rsID / SNP)

rs142508030

PIGN

rs142508030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGN. Location: chromosome 18, position 59,806,230. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIGNConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:59806230
Cytoband
18q21.33
HGVS
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe)
Allele change
Missense_L368F

Associated conditions / phenotypes

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

Public references

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