Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs149395439

DYNC1H1

rs149395439 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DYNC1H1. Location: chromosome 14, position 102,471,438. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DYNC1H1Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
14:102471438
Cytoband
14q32.31
HGVS
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)
Allele change
Synonymous_L1766L

Associated conditions / phenotypes

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