COL4A5 c.1423+1G>T

Variant ID: X-107834875-G-T

NM_033380.2(COL4A5):c.1423+1G>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.

Nature Communications
Yamamura, Tomohiko T; Horinouchi, Tomoko T; Adachi, Tomomi T; Terakawa, Maki M; Takaoka, Yutaka Y; Omachi, Kohei K; Takasato, Minoru M; Takaishi, Kiyosumi K; Shoji, Takao T; Onishi, Yoshiyuki Y; Kanazawa, Yoshito Y; Koizumi, Makoto M; Tomono, Yasuko Y; Sugano, Aki A; Shono, Akemi A; Minamikawa, Shogo S; Nagano, China C; Sakakibara, Nana N; Ishiko, Shinya S; Aoto, Yuya Y; Kamura, Misato M; Harita, Yutaka Y; Miura, Kenichiro K; Kanda, Shoichiro S; Morisada, Naoya N; Rossanti, Rini R; Ye, Ming Juan MJ; Nozu, Yoshimi Y; Matsuo, Masafumi M; Kai, Hirofumi H; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2020-06-02

Variant appearance in text: COL4A5: 1423+1G>T
PubMed Link: 32488001
Variant Present in the following documents:
  • 41467_2020_16605_MOESM2_ESM.pdf
View BVdb publication page



Utility of Genomic Testing after Renal Biopsy.

American Journal Of Nephrology
Murray, Susan L SL; Dorman, Anthony A; Benson, Katherine A KA; Connaughton, Dervla M DM; Stapleton, Caragh P CP; Fennelly, Neil K NK; Kennedy, Claire C; McDonnell, Ciara A CA; Kidd, Kendrah K; Cormican, Sarah M SM; Ryan, Louise A LA; Lavin, Peter P; Little, Mark A MA; Bleyer, Anthony J AJ; Doyle, Brendan B; Cavalleri, Gianpiero L GL; Hildebrandt, Friedhelm F; Conlon, Peter J PJ
Publication Date: 2020

Variant appearance in text: COL4A5: 1423+1G>T
PubMed Link: 31822006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic causes of chronic kidney disease in adults.

Kidney International
Connaughton, Dervla M DM; Kennedy, Claire C; Shril, Shirlee S; Mann, Nina N; Murray, Susan L SL; Williams, Patrick A PA; Conlon, Eoin E; Nakayama, Makiko M; van der Ven, Amelie T AT; Ityel, Hadas H; Kause, Franziska F; Kolvenbach, Caroline M CM; Dai, Rufeng R; Vivante, Asaf A; Braun, Daniela A DA; Schneider, Ronen R; Kitzler, Thomas M TM; Moloney, Brona B; Moran, Conor P CP; Smyth, John S JS; Kennedy, Alan A; Benson, Katherine K; Stapleton, Caragh C; Denton, Mark M; Magee, Colm C; O'Seaghdha, Conall M CM; Plant, William D WD; Griffin, Matthew D MD; Awan, Atif A; Sweeney, Clodagh C; Mane, Shrikant M SM; Lifton, Richard P RP; Griffin, Brenda B; Leavey, Sean S; Casserly, Liam L; de Freitas, Declan G DG; Holian, John J; Dorman, Anthony A; Doyle, Brendan B; Lavin, Peter J PJ; Little, Mark A MA; Conlon, Peter J PJ; Hildebrandt, Friedhelm F
Publication Date: 2019-04

Variant appearance in text: COL4A5: 1423+1G>T
PubMed Link: 30773290
Variant Present in the following documents:
  • Main text
View BVdb publication page