Variant (rsID / SNP)

rs192959810

rs192959810 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,452,266. Clinical significance in the table: Likely benign.

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Reference-table entries

DYNC1H1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:102452266
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
Allele change: Synonymous_L568L

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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