VARIANT: 1285v1
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Entry
1285v1 Variant
Name
COL4A3 mutation
Type
Loss of function
Gene
COL4A3
collagen type IV alpha 3 chain [KO:
K06237
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
120070
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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