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Variant (rsID / SNP)

rs143332484

TREM2

rs143332484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TREM2. Location: chromosome 6, position 41,129,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TREM2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
6:41129207
Cytoband
6p21.1
HGVS
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
Allele change
Missense_R62H

Associated conditions / phenotypes

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Public references

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