rs104886091
|
|
|
0.710 |
GeneticVariation |
BEFREE |
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
|
1363780 |
1992 |
rs104886186
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
|
8893151 |
1996 |
rs104886308
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews.
|
9150741 |
1997 |
rs78972735
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We found there were no clinical features of Alport syndrome not only in six probands with c.2858G>T(p.(G953V)) in COL4A5 plus pathogenic variants in other genes (e.g., WT1, ADCK4, NPHP1, TRPC6, COL4A4, and PAX2) but also in another six probands with only the c.2858G>T(p.(G953V)) variant.
|
31576025 |
2020 |
rs78972735
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In addition, a collagen type IV α 5 chain (<i>COL4A5</i>) variant (c.2858G>T, rs78972735), annotated as a pathogenic mutation in dbSNP and human gene mutation database (HGMD), was found in four family members with no clinical traits of AS.
|
28827396 |
2017 |
rs104886302
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
|
17277342 |
2007 |
rs104886303
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L1649R mutation is a relatively common cause of Alport syndrome in the western United States, in part because of the rapid growth and migratory expansion of mid-nineteenth-century pioneer populations carrying the gene.
|
8651292 |
1996 |
rs104886091
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104886186
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104886308
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs104886047
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886048
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886049
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886050
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886051
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886052
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886055
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886056
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886057
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886059
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886060
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886061
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886063
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886063
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs104886066
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|