Variant (rsID / SNP)
rs1044499
rs1044499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHMP2B. Location: chromosome 3, position 87,299,075. Clinical significance in the table: Benign.
Reference-table entries
CHMP2BBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:87299075
- Cytoband
- 3p11.2
- HGVS
- NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)
- Allele change
- Synonymous_T83T
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.