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Variant (rsID / SNP)

rs150286673

DYNC1H1

rs150286673 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,515,844. 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
14:102515844
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=)
Allele change
Synonymous_S4480S

Associated conditions / phenotypes

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

Public references

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