Variant (rsID / SNP)

rs755042147

rs755042147 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCOLN1. Location: chromosome 19, position 7,593,525. 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: Deletion
Chromosome / position: 19:7593525
Cytoband: 19p13.2
HGVS: NM_020533.3(MCOLN1):c.920del (p.Leu307fs)

Associated conditions / phenotypes

Mucolipidosis type IV

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.