Variant (rsID / SNP)

rs121909092

rs121909092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,904,505. 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: 19:10904505
Cytoband: 19p13.2
HGVS: NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
Allele change: Missense_E368K

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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