Variant (rsID / SNP)

rs121908374

rs121908374 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCOLN1. Location: chromosome 19, position 7,594,059. Clinical significance in the table: Pathogenic.

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Reference-table entries

MCOLN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:7594059
Cytoband: 19p13.2
HGVS: NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
Allele change: Missense_R403C

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.