Variant (rsID / SNP)

rs7958709

rs7958709 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,164,255. 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: 12:102164255
Cytoband: 12q23.2
HGVS: NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
Allele change: Missense_I348L

Associated conditions / phenotypes

Mucolipidosis type II|Pseudo-Hurler polydystrophy|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.