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Variant (rsID / SNP)

rs72466494

DCTN1

rs72466494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,590,116. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DCTN1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:74590116
Cytoband
2p13.1
HGVS
NM_004082.5(DCTN1):c.3529+5G>A
Allele change
Silent

Associated conditions / phenotypes

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