Variant (rsID / SNP)

rs138571942

rs138571942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,516,430. 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: 14:102516430
Cytoband: 14q32.31
HGVS: NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
Allele change: Synonymous_T4569T

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.