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Variant (rsID / SNP)

rs115958467

PIGL

rs115958467 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGL. Location: chromosome 17, position 16,203,290. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PIGLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:16203290
Cytoband
17p11.2
HGVS
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)
Allele change
Missense_L142M

Associated conditions / phenotypes

CHIME syndrome|Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome

Public references

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