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Variant (rsID / SNP)

rs145303331

PIGL

rs145303331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGL. Location: chromosome 17, position 16,220,000. 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
17:16220000
Cytoband
17p11.2
HGVS
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
Allele change
Missense_L167P

Associated conditions / phenotypes

CHIME syndrome|Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome|8 conditions

Public references

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