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Variant (rsID / SNP)

rs144250390

DNM2

rs144250390 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,870,442. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

DNM2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:10870442
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
Allele change
Missense_V64I

Associated conditions / phenotypes

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

Public references

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