Variant (rsID / SNP)

rs192687061

rs192687061 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GNPTAB. Location: chromosome 12, position 102,155,357. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GNPTABUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:102155357
Cytoband: 12q23.2
HGVS: NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg)
Allele change: Missense_Q967R

Associated conditions / phenotypes

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.