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NM_001927.4:c.1076_1084del
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NM_001927.4:c.1076_1084del
HGVS Expressions
NG_008043.1:g.8016_8024del
NM_001927.4:c.1076_1084del
NP_001918.3:p.Glu359_Ser361del
NC_000002.12:g.219421392_219421400del
Associated Genes
Desmin
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
58409037
Clinvar
66391
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601419.1
Saudi Arabia
1
Likely Pathogenic
Myopathy, Myofibrillar, Desmin-Related
Monies et al. 2019
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Contributors
Pratibha Nair: 23.11.2023
Edit History
Pratibha Nair: 23.11.2023
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Algeria
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Qatar
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Arab Countries with reported incidence
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