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Variant (rsID / SNP)

rs34083392

GNPTAB

rs34083392 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,153,860. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GNPTABBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:102153860
Cytoband
12q23.2
HGVS
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met)
Allele change
Missense_T1066M

Associated conditions / phenotypes

Pseudo-Hurler polydystrophy|Mucolipidosis type II|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.