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Variant (rsID / SNP)

rs281864980

GNPTAB

rs281864980 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,159,967. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GNPTABPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:102159967
Cytoband
12q23.2
HGVS
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
Allele change
Missense_C505Y

Associated conditions / phenotypes

Pseudo-Hurler polydystrophy|Juvenile osteochondrosis of spine|Legg-Calve-Perthes disease|Mucolipidosis type II|Pseudo-Hurler polydystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.