Variant (rsID / SNP)

rs281865007

rs281865007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,154,987. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GNPTABLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:102154987
Cytoband: 12q23.2
HGVS: NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)
Allele change: Missense_D1018G

Associated conditions / phenotypes

Mucolipidosis type II|Mucolipidosis type II|Pseudo-Hurler polydystrophy

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.