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Variant (rsID / SNP)

rs797045535

DYNC1H1

rs797045535 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,483,494. 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
14:102483494
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
Allele change
Missense_E2640K

Associated conditions / phenotypes

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|Charcot-Marie-Tooth disease axonal type 2O|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.