Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs201174299

DYNC1H1

rs201174299 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,506,982. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DYNC1H1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
14:102506982
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=)
Allele change
Synonymous_P3971P

Associated conditions / phenotypes

Autosomal dominant cerebellar ataxia|Charcot-Marie-Tooth disease axonal type 2O

Public references

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