KEGG   VARIANT: 1286v1
Entry
1286v1                      Variant                                
Name
COL4A4 mutation
Gene
COL4A4  collagen type IV alpha 4 chain [KO:K06237]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120131
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00581  Alport syndrome
H00582  Benign familial hematuria
Reference
PMID:38021591
  Authors
Adone A, Anjankar A
  Title
Alport Syndrome: A Comprehensive Review.
  Journal
Cureus 15:e47129 (2023)
DOI:10.7759/cureus.47129
Reference
PMID:11961012
  Authors
Badenas C, Praga M, Tazon B, Heidet L, Arrondel C, Armengol A, Andres A, Morales E, Camacho JA, Lens X, Davila S, Mila M, Antignac C, Darnell A, Torra R
  Title
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
  Journal
J Am Soc Nephrol 13:1248-1254 (2002)
DOI:10.1681/ASN.V1351248
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