Variant (rsID / SNP)

rs142075589

rs142075589 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPC2. Location: chromosome 14, position 74,951,269. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NPC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 14:74951269
Cytoband: 14q24.3
HGVS: NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
Allele change: Missense_K71R

Associated conditions / phenotypes

Niemann-Pick disease, type C1|Niemann-Pick disease, type C2

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.