Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs200191870

DNM2

rs200191870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DNM2. Location: chromosome 19, position 10,887,837. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

DNM2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:10887837
Cytoband
19p13.2
HGVS
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
Allele change
Synonymous_D211D

Associated conditions / phenotypes

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

Public references

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