Full data view for gene CNGA3

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001298.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.1315C>T r.(?) p.(Arg439Trp) - Unknown - VUS g.99012948C>T g.98396485C>T - - CNGA3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #1 - likely pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT858 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #2 - likely pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT128 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #2 - likely pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT172 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #2 - likely pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT435 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #2 - likely pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT840 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. 8 c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) - pathogenic g.99012948C>T - c.1315C>T - CNGA3_000068 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Unknown - likely pathogenic g.99012948C>T g.98396485C>T CNGA3 c.829C>T(;)1315C>T - CNGA3_000068 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 14481 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #1 - likely pathogenic g.99012948C>T g.98396485C>T CNGA3 c.[1315C>T];[1435A>G;1436A>T] - CNGA3_000068 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 19610 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #1 - likely pathogenic g.99012948C>T g.98396485C>T allele 1/2: R439W/R277C - CNGA3_000068 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO337 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic g.99012948C>T g.98396485C>T CNGA3 c.[682G>A;1315C>T] - CNGA3_000068 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 2; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic g.99012948C>T g.98396485C>T CNGA3 c.1315C>T - CNGA3_000068 homozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Parent #2 ACMG pathogenic g.99012948C>T g.98396485C>T CNGA3 c.1315C>T - CNGA3_000068 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 2; segregation analysis: both parents: 0, one parent or other relatives: 1; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 ACMG PM1, PP2, PM2, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamNPatIV1 PubMed: Basharat 2024 5-generation family, 4 affected (3F, M) F yes Pakistan - - - - - 4 Rabia Basharat
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 ACMG PM1, PP2, PM2, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamNPatIV2 PubMed: Basharat 2024 brother M yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 ACMG PM1, PP2, PM2, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamNPatV1 PubMed: Basharat 2024 niece F yes Pakistan - - - - - 1 Rabia Basharat
+/. - c.1315C>T r.(?) p.(Arg439Trp) - Both (homozygous) ACMG pathogenic (recessive) g.99012948C>T g.98396485C>T - - CNGA3_000068 ACMG PM1, PP2, PM2, PP3, PP5 PubMed: Basharat 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - smMIPs ? FamNPatV2 PubMed: Basharat 2024 niece F yes Pakistan - - - - - 1 Rabia Basharat
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