Variant (rsID / SNP)

rs143800457

rs143800457 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCTN1. Location: chromosome 2, position 74,594,519. Clinical significance in the table: Benign.

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Reference-table entries

DCTN1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:74594519
Cytoband: 2p13.1
HGVS: NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg)
Allele change: Missense_Q738R

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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