rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
C
0.800
CausalMutation
CLINVAR
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
9150741
1997
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
9848783
1998
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
7853788
1994
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
8940267
1996
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
8651296
1996
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Clinical utility gene card for: Alport syndrome.
22166944
2012
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
1352287
1992
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
9452056
1998
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
8406498
1993
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
1376965
1992
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
8829632
1996
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
10561141
1999
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
10563487
1999
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
1672282
1991
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Mutational analysis of COL4A5 gene in Korean Alport syndrome.
10684360
2000
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
10862091
2000
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
11004279
2000
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
24522658
2014
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Detection of mutations in COL4A5 in patients with Alport syndrome.
10094548
1999
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
11223851
2001
rs104886287
×
Entrez Id:
1287
Gene Symbol:
COL4A5
COL4A5
ALPORT SYNDROME 1, X-LINKED
0.800
GeneticVariation
UNIPROT
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
7599631
1995