Variant (rsID / SNP)

rs121909089

rs121909089 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,904,509. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

DNM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:10904509
Cytoband: 19p13.2
HGVS: NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
Allele change: Missense_R369Q

Associated conditions / phenotypes

Autosomal dominant centronuclear myopathy|Centronuclear myopathy|Charcot-Marie-Tooth disease dominant intermediate B

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.