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Variant (rsID / SNP)

rs121909093

DNM2

rs121909093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,922,991. 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
19:10922991
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys)
Allele change
Missense_G537C

Associated conditions / phenotypes

Autosomal dominant Charcot-Marie-Tooth disease type 2M|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.