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.

81 entries on 1 page. Showing entries 1 - 81.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - pathogenic g.99012462C>T g.98395999C>T CNGA3(NM_001298.3):c.829C>T (p.R277C) - CNGA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Paternal (confirmed) - likely pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Arab-Muslim - - - - 2 Dror Sharon
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) - likely pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Yemenite;Jewish - - - - 1 Dror Sharon
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - pathogenic g.99012462C>T g.98395999C>T CNGA3(NM_001298.3):c.829C>T (p.R277C) - CNGA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893620 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Holtan 2020 - - Germline - 2/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 2 patients with variant in heterozygous or compound heterozygous form - - Norway - - - - - 2 Global Variome, with Curator vacancy
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown ACMG pathogenic g.99012462C>T - - - CNGA3_000033 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 5 IRD families - - Israel - - - - - 5 Global Variome, with Curator vacancy
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown ACMG pathogenic g.99012462C>T - - - CNGA3_000033 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. 8 c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - pathogenic (recessive) g.99012462C>T - 829C>T(R277C) - CNGA3_000033 - PubMed: Eksandh 2002 - - Germline ? - - - - DNA SEQ - - retinal disease FamBPatII1 PubMed: Eksandh 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Sweden - - - - - 1 Julia Lopez
+?/. 8 c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) - likely pathogenic g.99012462C>T - p.R277C - CNGA3_000033 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT199 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+?/. 8 c.829C>T r.(?) p.(Arg277Cys) - Unknown - likely pathogenic g.99012462C>T - c.829C>T (p.R277C) - CNGA3_000033 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 1 LOVD
+/. 8 c.829C>T r.(?) p.(Arg277Cys) - Maternal (confirmed) ACMG pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Tracewska 2021, MolVis in press - - Germline yes 0,00086 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 274 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 2 LOVD
+/. 8 c.829C>T r.(?) p.(Arg277Cys) - Maternal (confirmed) ACMG pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Tracewska 2021, MolVis in press - - Germline yes 0,00086 (in-house database, ~5000 samples) - - - DNA SEQ buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 275 Tracewska 2021, MolVis in press brother M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.829C>T r.(?) p.(Arg277Cys) - Maternal (confirmed) ACMG pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Tracewska 2021, MolVis in press - - Germline yes 0,00086 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 328 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.829C>T r.(?) p.(Arg277Cys) - Unknown ACMG pathogenic g.99012462C>T g.98395999C>T - - CNGA3_000033 - Tracewska 2021, MolVis in press - - Germline - 0,00086 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 358 Tracewska 2021, MolVis in press proband F no Poland Slavic - - yes - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown ACMG VUS g.99012462C>T - - - CNGA3_000033 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_SH_0003 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) ACMG VUS g.99012462C>T - - - CNGA3_000033 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - ACHM IR_GH_0080 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - pathogenic g.99012462C>T g.98395999C>T CNGB3: c.[1208G>A];[(1208G>A)], p.[R403Q];[R403Q], CNGA3: c.[829C>T];[=] - CNGA3_000033 - PubMed: Burkhard 2018 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 10 PubMed: Burkhard 2018 - F no - - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - likely pathogenic g.99012462C>T g.98395999C>T c.829C-->T, c.945C-->G; p.Arg277Cys, p.His315Gln - CNGA3_000033 confirmed with Sanger sequencing; potentially compound heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - CHED 285 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3, variant 1: c.572G>A/p.C191Y, variant 2: c.829C>T/p.R277C - CNGA3_000033 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 1299 PubMed: Weisschuh 2020 Filing key number: 1159, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat5 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat6 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat8 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 c.[829C>T];[847C>T] - CNGA3_000033 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 13066 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T(;)1315C>T - CNGA3_000033 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
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/F547L - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO32/M PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/Y573C - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO159/T PubMed: Wissinger 2001 - M - Netherlands - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/R427C - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO65/A PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/G557R - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO254/A PubMed: Wissinger 2001 - M - United States - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/R283W - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease ZD95/Kf PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/R436W - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO185/M PubMed: Wissinger 2001 - F - Greece - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R277C/Q537X - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO34/831 PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: L186F/R277C - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO47/C PubMed: Wissinger 2001 - F - Sweden - - - - - 1 LOVD
+?/. 7 c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: C191Y/R277C - CNGA3_000033 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO118/399 PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 allele 1/allele 2: R277C/R427C - CNGA3_000033 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO65 PubMed: Koeppen 2008 - F - - - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 allele 1/allele 2: R277C/R563C - CNGA3_000033 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO463 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: R439W/R277C - CNGA3_000033 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO337 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: A469T/R277C - CNGA3_000033 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO439 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: F547L/R277C - CNGA3_000033 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO361 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T allele 1/2: F547L/R277C - CNGA3_000033 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO499 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Paternal (confirmed) - likely pathogenic g.99012462C>T g.98395999C>T c.829C T p.R277C and c.1580T G p.L527R - CNGA3_000033 heterozygous PubMed: Lam 2011 - - Germline yes - - - - DNA SEQ-NG blood Exome sequencing retinal disease II:1 PubMed: Lam 2011 Family ACHM-GAWa01; sister of II:2 F no - - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Paternal (confirmed) - likely pathogenic g.99012462C>T g.98395999C>T c.829C T p.R277C and c.1580T G p.L527R - CNGA3_000033 heterozygous PubMed: Lam 2011 - - Germline yes - - - - DNA SEQ blood Exome sequencing retinal disease II:2 PubMed: Lam 2011 Family ACHM-GAWa01; brother of II:1 M no - - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T c.829C>T I c.985G>T - CNGA3_000033 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0216-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) - likely pathogenic g.99012462C>T g.98395999C>T c.829C>T I c.829C>T - CNGA3_000033 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0603-1 PubMed: Zelinger 2015 - - no Israel Yemen Jewish - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T c.829C>T I c.1669G>A - CNGA3_000033 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD2287 PubMed: Zelinger 2015 - - no United States ltaIian/Scotch/ Eastern European - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T c.829C>T I c.778G>A - CNGA3_000033 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD3206 PubMed: Zelinger 2015 - - no United States Eastern European - - - - 1 LOVD
+?/. p.(Arg277Cys) c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 829C>T, Arg277Cys - CNGA3_000033 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_10008 PubMed: Georgiou 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg277Cys) c.829C>T r.(?) p.(Arg277Cys) - Parent #2 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 829C>T, Arg277Cys - CNGA3_000033 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0398 PubMed: Georgiou 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 - likely pathogenic g.99012462C>T g.98395999C>T CNGA3 R277C - CNGA3_000033 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Unknown ? - - - - DNA ? - - retinal disease 918 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 4 ; number of affected individuals: 4; segregation analysis: both parents: 1, one parent or other relatives: 0; no segregation analysis possible: 3 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 3 ; number of affected individuals: 4; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 2 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 2; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 2 ; number of affected individuals: 3; segregation analysis: both parents: 2, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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: 0, one parent or other relatives: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous 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.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 1; segregation analysis: both parents: 0, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #2 ACMG pathogenic g.99012462C>T g.98395999C>T CNGA3 c.829C>T - CNGA3_000033 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 6 ; number of affected individuals: 6; segregation analysis: both parents: 1, one parent or other relatives: 1; no segregation analysis possible: 4 - - - - - - - - 1 LOVD
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown ACMG pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1281 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 ACMG PS4, PM3_strong, PP3_strong, PS3_moderate, PM1, PM5, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam555Pat77 PubMed: Andersen 2023 family, 2 affected - no Denmark - - - - - 2 Susanne Kohl
+/. - c.829C>T r.(?) p.(Arg277Cys) - Parent #1 ACMG pathogenic (recessive) g.99012462C>T g.98395999C>T - - CNGA3_000033 ACMG PS4, PM3_strong, PP3_strong, PS3_moderate, PM1, PM5, PM2_sup PubMed: Andersen 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ACHM Fam555Pat78 PubMed: Andersen 2023 sib - no Denmark - - - - - 1 Susanne Kohl
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