Variant (rsID / SNP)
rs140841480
rs140841480 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,476,187. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:102476187
- Cytoband
- 14q32.31
- HGVS
- NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
- Allele change
- Synonymous_A1995A
Associated conditions / phenotypes
History of neurodevelopmental disorder|Charcot-Marie-Tooth disease axonal type 2O|Intellectual disability, autosomal dominant 13|Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures|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.