Variant (rsID / SNP)

rs17189270

rs17189270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP2B. Location: chromosome 3, position 87,303,203. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHMP2BBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:87303203
Cytoband: 3p11.2
HGVS: NM_014043.4(CHMP2B):c.*231T>C
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.