COL4A5 c.1634G>C ;(p.G545A)

Variant ID: X-107840653-G-C

NM_033380.2(COL4A5):c.1634G>C;(p.G545A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

European Journal Of Human Genetics : Ejhg
Savige, Judy J; Storey, Helen H; Watson, Elizabeth E; Hertz, Jens Michael JM; Deltas, Constantinos C; Renieri, Alessandra A; Mari, Francesca F; Hilbert, Pascale P; Plevova, Pavlina P; Byers, Peter P; Cerkauskaite, Agne A; Gregory, Martin M; Cerkauskiene, Rimante R; Ljubanovic, Danica Galesic DG; Becherucci, Francesca F; Errichiello, Carmela C; Massella, Laura L; Aiello, Valeria V; Lennon, Rachel R; Hopkinson, Louise L; Koziell, Ania A; Lungu, Adrian A; Rothe, Hansjorg Martin HM; Hoefele, Julia J; Zacchia, Miriam M; Martic, Tamara Nikuseva TN; Gupta, Asheeta A; van Eerde, Albertien A; Gear, Susie S; Landini, Samuela S; Palazzo, Viviana V; Al-Rabadi, Laith L; Claes, Kathleen K; Corveleyn, Anniek A; Van Hoof, Evelien E; van Geel, Micheel M; Williams, Maggie M; Ashton, Emma E; Belge, Hendica H; Ars, Elisabeth E; Bierzynska, Agnieszka A; Gangemi, Concetta C; Lipska-Ziętkiewicz, Beata S BS
Publication Date: 2021-08

Variant appearance in text: COL4A5: 1634G>C; Gly545Ala
PubMed Link: 33854215
Variant Present in the following documents:
  • Main text
View BVdb publication page


Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

European Journal Of Human Genetics : Ejhg
Savige, Judy J; Storey, Helen H; Watson, Elizabeth E; Hertz, Jens Michael JM; Deltas, Constantinos C; Renieri, Alessandra A; Mari, Francesca F; Hilbert, Pascale P; Plevova, Pavlina P; Byers, Peter P; Cerkauskaite, Agne A; Gregory, Martin M; Cerkauskiene, Rimante R; Ljubanovic, Danica Galesic DG; Becherucci, Francesca F; Errichiello, Carmela C; Massella, Laura L; Aiello, Valeria V; Lennon, Rachel R; Hopkinson, Louise L; Koziell, Ania A; Lungu, Adrian A; Rothe, Hansjorg Martin HM; Hoefele, Julia J; Zacchia, Miriam M; Martic, Tamara Nikuseva TN; Gupta, Asheeta A; van Eerde, Albertien A; Gear, Susie S; Landini, Samuela S; Palazzo, Viviana V; Al-Rabadi, Laith L; Claes, Kathleen K; Corveleyn, Anniek A; Van Hoof, Evelien E; van Geel, Micheel M; Williams, Maggie M; Ashton, Emma E; Belge, Hendica H; Ars, Elisabeth E; Bierzynska, Agnieszka A; Gangemi, Concetta C; Lipska-Ziętkiewicz, Beata S BS
Publication Date: 2021-08

Variant appearance in text: COL4A5: 1634G>C; Gly545Ala
PubMed Link: 33854215
Variant Present in the following documents:
  • Main text
View BVdb publication page