Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Allele/Variant Diseases: congenital structural myopathy Molecular Consequence: stop gained

Klhl31em1Eno

(Mus musculus)
Allele/Variant
Source: MGI:6163749
Genes: Klhl31 (Mmu)
Synonyms: Not Available
Variant Type: insertion
Molecular Consequence: stop_gained, frameshift_variant
Diseases: centronuclear myopathy
Variant Name: Not Available

ar479

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00000254
Genes: mtm-9 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: centronuclear myopathy
Variant Name: Not Available

ar513

(Caenorhabditis elegans)
Allele/Variant
Source: WB:WBVar00000266
Genes: mtm-6 (Cel)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: centronuclear myopathy
Variant Name: Not Available