Full data view for gene COL4A3

Information The variants shown are described using the NM_000091.4 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

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Methylation     

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Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Data_av     

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Panel size     

Owner     
+?/. 28 c.2083G>A r.(?) p.(Gly695Arg) Unknown - likely pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 Missense; Polymorphism PubMed: Wang 2004 - - Germline - - - 0 - DNA SSCA - - BFH;TBMN - PubMed: Wang 2004 - - - Australia - - 0 - - 1 Judy Savige
+?/. 28 c.2083G>A r.(?) p.(Gly695Arg) Maternal (confirmed) - likely pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 - PubMed: Storey 2013 - - Germline - - - 0 - DNA SEQ - - ASAR - PubMed: Storey 2013 - M - - English - 0 - - 1 Helen Storey
./. 28 c.2083G>A r.(?) p.(Gly695Arg) Unknown - - g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - DNA SEQ - - ? - Matonagel - - - - - - 0 - - 1 Judy Savige
+/. 28 c.2083G>A r.(?) p.(Gly695Arg) Maternal (confirmed) - pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - DNA SEQ - - BFH;TBMN - - COL4A3 variant present in mother (haematuria), sister (haematuria, mild proteinuria and FSGS), brother (ESRF and FSGS), daughter (haematuria). F - - Britain/Spain - 0 - - 1 Daniel Gale
+/. 28 c.2083G>A r.(?) p.(Gly695Arg) Unknown - pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - DNA SEQ - - BFH;TBMN - - COL4A3 variant present in mother (haematuria), sister (haematuria, mild proteinuria and FSGS), brother (ESRF and FSGS), daughter (haematuria). F - - Britain/Spain - 0 - - 1 Daniel Gale
+/. - c.2083G>A r.(?) p.(Gly695Arg) Unknown - pathogenic g.228142227G>A g.227277511G>A COL4A3(NM_000091.4):c.2083G>A (p.(Gly695Arg), p.G695R) - COL4A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 28 c.2083G>A r.(?) p.(Gly695Arg) Parent #1 - likely pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - DNA SEQ - - ASAR - - - F - United Kingdom (Great Britain) - - 0 - - 1 Judy Savige
+?/. 28 c.2083G>A r.(?) p.(Gly695Arg) Parent #1 - likely pathogenic g.228142227G>A g.227277511G>A - - COL4A3_000044 - - - - Germline - - - 0 - DNA SEQ - - ASAR - - - F - United Kingdom (Great Britain) - - 0 - - 1 Judy Savige
./. 28 c.2083G>A r.(?) p.Gly695Arg Parent #1 - VUS g.228142227G>A g.227277511G>A - - COL4A3_000044 - PubMed: Malone 2014, Journal: Malone 2014 - - Germline - - - 0 - DNA SEQ-NG - WES FSGS - PubMed: Malone 2014, Journal: Malone 2014 - F - United States white - 0 - - 1 Judy Savige
+?/. - c.2083G>A r.(?) p.(Gly695Arg) Unknown - likely pathogenic g.228142227G>A g.227277511G>A COL4A3(NM_000091.4):c.2083G>A (p.(Gly695Arg), p.G695R) - COL4A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2083G>A r.(?) p.(Gly695Arg) Unknown - pathogenic g.228142227G>A g.227277511G>A COL4A3(NM_000091.4):c.2083G>A (p.(Gly695Arg), p.G695R) - COL4A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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