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Variant (rsID / SNP)

rs72659383

DCTN1

rs72659383 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,592,252. 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
2:74592252
Cytoband
2p13.1
HGVS
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
Allele change
Missense_R1049Q

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.