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Variant (rsID / SNP)

rs121908372

MCOLN1

rs121908372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCOLN1. Location: chromosome 19, position 7,593,806. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MCOLN1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:7593806
Cytoband
19p13.2
HGVS
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
Allele change
Missense_D362Y

Associated conditions / phenotypes

Mucolipidosis type IV

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.