Variant (rsID / SNP)

rs375767483

rs375767483 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,514,296. 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: 14:102514296
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
Allele change: Synonymous_T4383T

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O|History of neurodevelopmental disorder|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.