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Variant (rsID / SNP)

rs138407720

DYNC1H1

rs138407720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,481,666. 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
14:102481666
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)
Allele change
Synonymous_L2413L

Associated conditions / phenotypes

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

Public references

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