Variant (rsID / SNP)

rs17541519

rs17541519 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,506,064. Clinical significance in the table: Benign.

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Reference-table entries

DYNC1H1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:102506064
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)
Allele change: Synonymous_T3895T

Associated conditions / phenotypes

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