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Variant (rsID / SNP)

rs117199211

DYNC1H1

rs117199211 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,470,972. 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
14:102470972
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)
Allele change
Synonymous_N1667N

Associated conditions / phenotypes

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