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Variant (rsID / SNP)

rs192188850

CHMP2B

rs192188850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP2B. Location: chromosome 3, position 87,294,955. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHMP2BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:87294955
Cytoband
3p11.2
HGVS
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met)
Allele change
Missense_T32M

Associated conditions / phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Public references

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