Variant (rsID / SNP)

rs116591352

rs116591352 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGL. Location: chromosome 17, position 16,221,097. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PIGLUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:16221097
Cytoband: 17p11.2
HGVS: NM_004278.4(PIGL):c.535G>A (p.Val179Met)
Allele change: Missense_V179M

Associated conditions / phenotypes

CHIME syndrome

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.