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Variant (rsID / SNP)

rs145487328

DYNC1H1

rs145487328 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,483,246. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DYNC1H1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:102483246
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=)
Allele change
Synonymous_A2586A

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder

Public references

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