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Variant (rsID / SNP)

rs112543062

GNPTAB

rs112543062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,163,939. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

GNPTABConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:102163939
Cytoband
12q23.2
HGVS
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro)
Allele change
Missense_T382A

Associated conditions / phenotypes

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.