VARIANT: 1292v1
Help
Entry
1292v1 Variant
Name
COL6A2 mutation
Gene
COL6A2
collagen type VI alpha 2 chain [KO:
K06238
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
120240
Network
nt06539
Cytoskeleton in muscle cells
Disease
H01341
Collagen VI myopathy
Reference
PMID:
11865138
Authors
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP
Title
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Journal
Neurology 58:593-602 (2002)
DOI:
10.1212/wnl.58.4.593
LinkDB
All DBs
DBGET
integrated database retrieval system