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Variant (rsID / SNP)

rs149496322

DYNC1H1

rs149496322 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,500,421. 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
14:102500421
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
Allele change
Missense_L3508I

Associated conditions / phenotypes

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