Variant (rsID / SNP)

rs202146344

rs202146344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAP3. Location: chromosome 17, position 37,840,962. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PGAP3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:37840962
Cytoband: 17q12
HGVS: NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)
Allele change: Missense_S107L

Associated conditions / phenotypes

Hyperphosphatasia with intellectual disability syndrome 4

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.