Variant (rsID / SNP)

rs142067039

rs142067039 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGW, MYO19. Location: chromosome 17, position 34,893,056. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PIGWUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:34893056
Cytoband: 17q12
HGVS: NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
Allele change: Missense_R36G

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.