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Variant (rsID / SNP)

rs151001016

DYNC1H1

rs151001016 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,474,668. 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
14:102474668
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
Allele change
Missense_D1991N

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2O|Autosomal dominant cerebellar ataxia|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.