Variant (rsID / SNP)

rs149753029

rs149753029 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,493,523. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

DYNC1H1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:102493523
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
Allele change: Synonymous_Q2928Q

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia|History of neurodevelopmental disorder|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.