Variant (rsID / SNP)

rs63751126

rs63751126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP2B. Location: chromosome 3, position 87,302,948. Clinical significance in the table: Pathogenic.

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Reference-table entries

CHMP2BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:87302948
Cytoband: 3p11.2
HGVS: NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
Allele change: Missense_Q165H

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.