Variant (rsID / SNP)
rs121909343
rs121909343 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,595,997. Clinical significance in the table: risk factor.
Reference-table entries
DCTN1Risk factor
- Clinical significance (as recorded)
- risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:74595997
- Cytoband
- 2p13.1
- HGVS
- NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr)
- Allele change
- Missense_M571T
Associated conditions / phenotypes
Amyotrophic lateral sclerosis, susceptibility to
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.