Variant (rsID / SNP)

rs137852885

rs137852885 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTG. Location: chromosome 16, position 1,411,955. Clinical significance in the table: Pathogenic.

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Reference-table entries

GNPTGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:1411955
Cytoband: 16p13.3
HGVS: NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
Allele change: Missense_G106S

Associated conditions / phenotypes

Mucolipidosis type III gamma

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.