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Variant (rsID / SNP)

rs121909091

DNM2

rs121909091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,909,219. Clinical significance in the table: Pathogenic.

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Reference-table entries

DNM2Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:10909219
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
Allele change
Missense_R465W

Associated conditions / phenotypes

Autosomal dominant centronuclear myopathy|Centronuclear myopathy|Charcot-Marie-Tooth disease dominant intermediate B|Abnormality of the musculature

Public references

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