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Variant (rsID / SNP)

rs587783595

DNM2

rs587783595 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,922,947. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

DNM2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:10922947
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
Allele change
Missense_R522H

Associated conditions / phenotypes

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

Public references

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