Full data view for gene COL4A5

Originally variants in the COL4A5 gene were described based on a 53-exon gene. Variants in the database are based on a 55-exon gene, containing two additional exons (42 and 43), both containing 9 nucleotides. We do not exclude that some variant descriptions were not yet corrected
Information The variants shown are described using the NM_033380.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - PubMed: Barker 2001 - - Germline - - - - - DNA SSCA - - ATS - PubMed: Barker 2001 - M - United States - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - PubMed: Martin 1998 - - Germline - - - - - DNA SEQ - - ATS - PubMed: Martin 1998 - - - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - PubMed: Tan 2010 - - Germline - - - - - DNA SEQ - - ATS - PubMed: Tan 2010 - - - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - PubMed: Slajpah 2007 - - Germline - - - - - DNA SEQ - - ATS - PubMed: Slajpah 2007 - - - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - PubMed: Demosthenous 2012 - - Germline - - - - - DNA SEQ - - ATS - PubMed: Demosthenous 2012 2 affected males. 3 female carriers M - Greece - - - - - 2 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - Matonagel - - Germline - - - - - DNA SEQ - - ATS - Matonagel - - - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - Matonagel - - Germline - - - - - DNA SEQ - - ATS - Matonagel - - - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A GGT-GAT - COL4A5_000084 - ARUP - - Germline - - - - - DNA SEQ - - ATS - ARUP - F - - - - - - - 1 Judy Savige
+?/. 25 c.1871G>A r.(?) p.(Gly624Asp) Parent #1 - likely pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - - - - Germline - - - - - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Kovacs 2016, Journal: Kovacs 2016 - - - Hungary Hungarian - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 The mutation is positioned immediately before the 12th tripeptide Gly-X-Y interruption which is of G1G type, thereby converting it to a G4G interruption in the collagenous domain. It has been described before as mild. Males from the family develop late-onset renal failure. One male reached ESRD at the age of 39 with hearing loss. Another affected male had haematuria and proteinuria with hearing loss, and normal serum creatinine but diffuse leiomyomatosis, at the age of 30. PubMed: Demosthenous 2012, Journal: Demosthenous 2012 - - Germline - - - - - DNA PCRdig blood linkage analysis ATS1 - PubMed: Demosthenous 2012, Journal: Demosthenous 2012 - M - Greece Greek - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Three daughters with Alport syndrome M - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Father with Alport syndrome F - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - BFH;TMN - PubMed: Weber 2016, Journal: Weber 2016 Mother and maternal grandfather with Alport syndrome M - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 - F - Turkey - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Father and sister with Alport syndrome F - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Mother with Alport syndrome M - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Mother and maternal grandfather with Alport syndrome M - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Weber 2016, Journal: Weber 2016 - - Germline - - - - - DNA SEQ blood - ATS2 - PubMed: Weber 2016, Journal: Weber 2016 Mother with Alport syndrome M - Germany - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - Gast et al. 2016, Inoue et al. 1999 - - Germline - - - - - DNA SEQ - - ATS2 - Gast 2016, Inoue 1999 - F - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - Martin, 2000 - - Germline - - - - - DNA SEQ - - ATS2 - Martin, 2000 - F - - - - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - Plant, 1999 - - Germline - - - - - DNA SEQ - - ATS2 - Plant, 1999 - F - - NW European - - - - 1 Judy Savige
+/. 25 c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 - PubMed: Daga 2020, Journal: Daga 2020, PubMed: Daga 2024, Journal: Daga 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT - - Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis 1212/18ats PubMed: Daga 2020, Journal: Daga 2020, PubMed: Daga 2024, Journal: Daga 2024 - F no Italy - - - - - 1 Alessandra Renieri
+?/. - c.1871G>A r.(?) p.(Gly624Asp) Unknown - likely pathogenic g.107842023G>A g.108598793G>A COL4A5(NM_000495.5):c.1871G>A (p.G624D) - COL4A5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1871G>A r.(?) p.(Gly624Asp) Unknown ACMG pathogenic (dominant) g.107842023G>A g.108598793G>A - - COL4A5_000084 ACMG PM1, PP2, PP3, PP4, PP5 PubMed: Marinakis 2021 - rs104886142 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? 20080 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.1871G>A r.(?) p.(Gly624Asp) Unknown - pathogenic g.107842023G>A - COL4A5(NM_000495.5):c.1871G>A (p.G624D) - COL4A5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1871G>A r.(?) p.(Gly624Asp) Unknown ACMG pathogenic g.107842023G>A g.108598793G>A - - COL4A5_000084 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072066 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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