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Variant (rsID / SNP)

rs150888094

DYNC1H1

rs150888094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,481,630. 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
14:102481630
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
Allele change
Missense_K2401N

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Charcot-Marie-Tooth disease|Intellectual disability, autosomal dominant 13

Public references

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