Variant (rsID / SNP)

rs61755368

rs61755368 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGW. Location: chromosome 17, position 34,893,655. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PIGWBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:34893655
Cytoband: 17q12
HGVS: NM_001346754.2(PIGW):c.705C>G (p.His235Gln)
Allele change: Missense_H235Q

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 5

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.