Variant (rsID / SNP)
rs72466496
rs72466496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,588,717. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
DCTN1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:74588717
- Cytoband
- 2p13.1
- HGVS
- NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
- Allele change
- Missense_T1249I
Associated conditions / phenotypes
Amyotrophic lateral sclerosis, susceptibility to|Perry syndrome|Amyotrophic lateral sclerosis type 1|Perry syndrome|Neuronopathy, distal hereditary motor, type 7B|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.