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Variant (rsID / SNP)

rs143763184

DCTN1

rs143763184 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,594,230. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DCTN1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
2:74594230
Cytoband
2p13.1
HGVS
NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met)
Allele change
Missense_T753M

Associated conditions / phenotypes

Neuronopathy, distal hereditary motor, type 7B|Perry syndrome|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|Perry syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.