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Variant (rsID / SNP)

rs121909344

DCTN1

rs121909344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,594,023. Clinical significance in the table: Uncertain significance.

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Reference-table entries

DCTN1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
2:74594023
Cytoband
2p13.1
HGVS
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
Allele change
Missense_R785W

Associated conditions / phenotypes

Amyotrophic lateral sclerosis, susceptibility to|Charcot-Marie-Tooth disease|Perry syndrome|Amyotrophic lateral sclerosis type 1|Neuronopathy, distal hereditary motor, type 7B|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.