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Variant (rsID / SNP)

rs121909090

DNM2

rs121909090 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,904,508. 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
19:10904508
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
Allele change
Missense_R369W

Associated conditions / phenotypes

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