Full data view for gene GUCA1A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000409.3 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic g.42147061C>T g.42179323C>T LOC118142757(NM_000409.5):c.526C>T (p.L176F) - GUCA1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.526C>T r.(?) p.(Leu176Phe) Parent #1 - pathogenic (dominant) g.42147061C>T g.42179323C>T - - GUCA1A_000007 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat177 PubMed: Birtel 2018 family M - Germany - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Parent #1 - likely pathogenic (dominant) g.42147061C>T g.42179323C>T - - GUCA1A_000007 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease MB54 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Parent #1 - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A, variant 1: c.526C>T/p.L176F - GUCA1A_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 1013 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Parent #1 - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A, variant 1: c.526C>T/p.L176F - GUCA1A_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1014 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Parent #1 - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A, variant 1: c.526C>T/p.L176F - GUCA1A_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1015 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Parent #1 - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A, variant 1: c.526C>T/p.L176F - GUCA1A_000007 solved, heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 1016 PubMed: Weisschuh 2020 Filing key number: 489, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. 6 c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A c.526C>T, p.Leu176Phe - GUCA1A_000007 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 123 PubMed: Gliem 2020 - F - (Germany) - - - - - 1 LOVD
+?/. 6 c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A c.526C>T, p.Leu176Phe - GUCA1A_000007 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 125 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. 6 c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic g.42147061C>T g.42179323C>T GUCA1A c.526C>T, p.Leu176Phe - GUCA1A_000007 heterozygous PubMed: Gliem 2020 - - Unknown ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease 126 PubMed: Gliem 2020 - M - (Germany) - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (inferred) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 PubMed: Vocke 2017 Family 1 F - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (inferred) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 PubMed: Vocke 2017 Family 1 M - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Maternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Vocke 2017 Family 1 M - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Vocke 2017 Family 1 M - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease I:1 PubMed: Vocke 2017 Family 2 M - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Vocke 2017 Family 2 F - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:2 PubMed: Vocke 2017 Family 2 F - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:3 PubMed: Vocke 2017 Family 2 F - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Unknown - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease I:2 PubMed: Vocke 2017 Family 3 F - - - - - - - 1 LOVD
+?/. - c.526C>T r.(?) p.(Leu176Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42147061C>T g.42179323C>T GUCA1A c.526C> T, p.L176F - GUCA1A_000007 heterozygous PubMed: Vocke 2017 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Vocke 2017 Family 3 M - - - - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.