Variant (rsID / SNP)

rs612862

rs612862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCOLN1. Location: chromosome 19, position 7,593,589. Clinical significance in the table: Benign.

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Reference-table entries

MCOLN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:7593589
Cytoband: 19p13.2
HGVS: NM_020533.3(MCOLN1):c.984C>T (p.Asn328=)
Allele change: Synonymous_N328N

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.