Variant (rsID / SNP)

rs63750818

rs63750818 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP2B. Location: chromosome 3, position 87,289,899. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CHMP2BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:87289899
Cytoband: 3p11.2
HGVS: NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
Allele change: Silent

Associated conditions / phenotypes

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

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.