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.

32 entries on 1 page. Showing entries 1 - 32.
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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.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic (dominant) g.42146112A>G - 6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys) - GUCA1A_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005202 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic (dominant) g.42146112A>G - 6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys) - GUCA1A_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007746 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 - likely pathogenic (dominant) g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Bryant 2018 - rs104893967 De novo - - - - - DNA SEQ-NG - WES retinal disease JB185 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 - pathogenic (dominant) g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD13–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic g.42146112A>G g.42178374A>G GUCA1A c.296A>G, p.Tyr99Cys - GUCA1A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005202 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic g.42146112A>G g.42178374A>G GUCA1A c.296A>G, p.Tyr99Cys - GUCA1A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007746 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G - c.296A>G - GUCA1A_000019 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A I/1 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/1 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/9 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/11 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A III/2 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A III/4 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A IV/2 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (inferred) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease B IV/1 PubMed: Downes 2001 Family B, mutation found also in 3 other family members, not sepcified F - - - - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (inferred) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Michaelides 2005 British family, proband's maternal uncle M - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (inferred) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 PubMed: Michaelides 2005 British family, proband's mother F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:1 PubMed: Michaelides 2005 British family, proband's maternal uncle's daughter F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Michaelides 2005 British family, proband's maternal uncle's son M - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:5 PubMed: Michaelides 2005 British family, proband F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:9 PubMed: Michaelides 2005 British family, proband's brother M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease I:1 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:1 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:9 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:11 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease III:2 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease III:4 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease IV:2 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070924 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070819 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079882 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079883 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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