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.

59 entries on 1 page. Showing entries 1 - 59.
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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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+/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141386891 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+?/. 8 c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic (recessive) g.99012912C>T - p.R427C - CNGA3_000038 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic (recessive) g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15011865 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - pathogenic (recessive) g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Matet 2018 - M no - white - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 454 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 455 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8758 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 8758 PubMed: Haer-Wigman 2017 patient - yes Netherlands - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - likely pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13001685 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - likely pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13012218 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - pathogenic (recessive) g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease JC_1240 PubMed: Dubis 2015 - F - - - - - - - 1 LOVD
+/. 8 c.1279C>T r.(?) p.(Arg427Cys) - Unknown - pathogenic g.99012912C>T - c.1279C>T - CNGA3_000038 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Paternal (confirmed) - pathogenic g.99012912C>T g.98396449C>T CNGB3: c.[819_826del];[1208G>A], p.[R274Vfs*13];[R403Q], CNGA3: c.[1279C>T];[=] - CNGA3_000038 - PubMed: Burkhard 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - retinal disease 16 PubMed: Burkhard 2018 - M no - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Maternal (confirmed) - likely pathogenic g.99012912C>T g.98396449C>T c.1279C-->T, c.67C-->T; p.Arg427Cys, p.Arg23* - CNGA3_000038 confirmed with Sanger sequencing; compound heterozygous PubMed: Patel 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood - ACHM2 278 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 7 c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1/2: R427C/R436W - CNGA3_000038 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease ZD128/M PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1/2: R427C/V451fs - CNGA3_000038 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO38/M PubMed: Wissinger 2001 - F - United States - - - - - 1 LOVD
+?/. 7 c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T allele 1/2: R277C/R427C - CNGA3_000038 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
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R23X/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD212 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R223W/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO419 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R277C/R427C - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R283W/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO306-1 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R283W/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO306-2 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: I315(del)/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO343 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: R436W/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD128 PubMed: Koeppen 2008 - M - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 allele 1/allele 2: V451(fs)/R427C - CNGA3_000038 no cDNA annotation given, variant extrapolated from literature PubMed: Koeppen 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO38 PubMed: Koeppen 2008 - F - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118 - CNGA3_000038 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 1 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118 - CNGA3_000038 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H - CNGA3_000038 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 6 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1: c.1279C>T, p.R427C, allele 2: c.1706G>A, p.R569H - CNGA3_000038 heterozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 7 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118 - CNGA3_000038 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease 1 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T c.1279C>T (p.Arg427Cys) c.667C>T (p.Arg223Trp) - CNGA3_000038 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A1 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T c.667C>T (p.Arg223Trp) /c.1279C>T (p.Arg427Cys) - CNGA3_000038 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A2 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T, p.Arg427Cys - CNGA3_000038 heterozygous PubMed: Burgueno-Montanes 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Burgueno-Montanes 2012 - ? - - - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 - likely pathogenic g.99012912C>T g.98396449C>T c.1279C>T I c.1350insG - CNGA3_000038 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD2724 PubMed: Zelinger 2015 - - no United States Old Order Amish/British - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T, (p.Arg427Cys) - CNGA3_000038 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 7 PubMed: Matet 2018 - M no France white - - - - 1 LOVD
+?/. p.(Arg427Cys) c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 1279C>T, Arg427Cys - CNGA3_000038 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0396 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg427Cys) c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 1279C>T, Arg427Cys - CNGA3_000038 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0397 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Both (homozygous) - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T, p.(Arg427Cys) - CNGA3_000038 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease LUSG06_II:6 PubMed: Yousaf 2022 family LUSG06, individual II:6 F yes Pakistan Pakistani - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Both (homozygous) - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T, p.(Arg427Cys) - CNGA3_000038 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease LUSG06_II:8 PubMed: Yousaf 2022 family LUSG06, individual II:8 F yes Pakistan Pakistani - - - - 1 LOVD
+?/. - c.1279C>T r.(?) p.(Arg427Cys) - Both (homozygous) - likely pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T, p.(Arg427Cys) - CNGA3_000038 homozygous PubMed: Yousaf 2022 - - Germline yes - - - - DNA SEQ-NG, SEQ blood exome sequencing retinal disease LUSG06_II:10 PubMed: Yousaf 2022 family LUSG06, individual II:10 F yes Pakistan Pakistani - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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: 1; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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: 0, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #1 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #2 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #2 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - 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: 3; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Parent #2 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Parent #2 ACMG pathogenic g.99012912C>T g.98396449C>T CNGA3 c.1279C>T - CNGA3_000038 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.1279C>T r.(?) p.(Arg427Cys) - Paternal (confirmed) - likely pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Moon 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease Pat10 PubMed: Moon 2021 - - - Korea - - - - - 1 Johan den Dunnen
+/. 8 c.1279C>T r.(?) p.(Arg427Cys) - Both (homozygous) ACMG pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071393 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.1279C>T r.(?) p.(Arg427Cys) - Unknown ACMG pathogenic g.99012912C>T g.98396449C>T - - CNGA3_000038 no variant 2nd chromosome, case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 067221 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
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