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.

57 entries on 1 page. Showing entries 1 - 57.
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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     

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Owner     
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - likely pathogenic g.99012939C>T g.98396476C>T CNGA3(NM_001298.2):c.1306C>T (p.R436W) - CNGA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Maternal (confirmed) - likely pathogenic g.99012939C>T g.98396476C>T - - CNGA3_000039 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - pathogenic g.99012939C>T g.98396476C>T CNGA3(NM_001298.2):c.1306C>T (p.R436W) - CNGA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown ACMG likely pathogenic g.99012939C>T - - - CNGA3_000039 - 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - pathogenic (recessive) g.99012939C>T - Arg436Trp/? - CNGA3_000039 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 2nd variant not found. Probably out of the screening scope. - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+?/. 8 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T - p.R436W - CNGA3_000039 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat1 PubMed: Matet 2018 - F no - white - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT876 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Both (homozygous) - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1067 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Both (homozygous) - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1256 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1310 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease MD16 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic (recessive) g.99012939C>T g.98396476C>T - - CNGA3_000039 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT389 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Both (homozygous) - pathogenic (recessive) g.99012939C>T - - - CNGA3_000039 - PubMed: Saqib 2015, Journal: Saqib 2015 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease FamMA25 PubMed: Saqib 2015, Journal: Saqib 2015 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - pathogenic g.99012939C>T g.98396476C>T CNGB3: c.[1148delC(;)1208G>A], p.[T383Ifs*13(;)R403Q], CNGA3: c.[1306C>T];[=] - CNGA3_000039 - PubMed: Burkhard 2018 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - retinal disease 15 PubMed: Burkhard 2018 - M no - - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - likely pathogenic g.99012939C>T g.98396476C>T c.1306C>T, p.(Arg436Trp) - CNGA3_000039 compound heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13984 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3, variant 1: c.668G>A/p.R223Q, variant 2: c.1306C>T/p.R436W - CNGA3_000039 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1281 PubMed: Weisschuh 2020 Filing key number: 1105, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.[755A>C];[1306C>T] - CNGA3_000039 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 18874 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.[833T>C];[1306C>T] - CNGA3_000039 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8437 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.[833T>C];[1306C>T] - CNGA3_000039 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 9020 PubMed: Sun 2020 early childhood onset defined as younger than 8y F - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1267dup(;)1306C>T - CNGA3_000039 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 14308 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.[1306C>T];[1306C>T] - CNGA3_000039 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 10661 PubMed: Sun 2020 early childhood onset defined as younger than 8y M - China - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.[1306C>T];[1687C>T] - CNGA3_000039 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 17281 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R436W/F547L - CNGA3_000039 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO202/J PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R436W/R563H - CNGA3_000039 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO223/J PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Unknown - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R436W/? - CNGA3_000039 single heterozygous variant in a recessive PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO16/G PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: P163L/R436W - CNGA3_000039 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO61/198 PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R427C/R436W - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R277C/R436W - CNGA3_000039 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
+/. - c.1306C>T r.(?) p.R436W - Paternal (confirmed) - pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T, p.R436W - CNGA3_000039 - PubMed: Goto-Omoto 2006 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: Goto-Omoto 2006 - F - - - - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 allele 1/allele 2: R436W/R427C - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1/2: R283Q/R436W - CNGA3_000039 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO411 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp - CNGA3_000039 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 6 PubMed: Genead 2011 - F - United States Jordanian - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1: c.848G>A - p.Arg283Gln, allele 2: c.1306C>T - p.Arg436Trp - CNGA3_000039 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 11 PubMed: Genead 2011 - F - United States African American - - - - 1 LOVD
+?/. 7 c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T allele 1: c.985G>T - p.Gly329Cys, allele 2: c.1306C>T - p.Arg436Trp - CNGA3_000039 heterozygous PubMed: Genead 2011 - - Unknown ? - - - - DNA SEQ blood - retinal disease 12 PubMed: Genead 2011 - M - United States Jordanian - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T c.847C>T I c.1306C>T - CNGA3_000039 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL01122-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #2 - likely pathogenic g.99012939C>T g.98396476C>T c.847C>T I c.1306C>T - CNGA3_000039 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL01122-4 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1306C>T r.(?) p.(Arg436Trp) - Unknown - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T, (p.Arg436Trp) - CNGA3_000039 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 1 PubMed: Matet 2018 - F no France white - - - - 1 LOVD
+?/. p.(Arg436Trp) c.1306C>T r.(?) p.(Arg436Trp) - Both (homozygous) - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 1306C>T, Arg436Trp - CNGA3_000039 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_0615 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg436Trp) c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 1306C>T, Arg436Trp - CNGA3_000039 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0396 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Arg436Trp) c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 - likely pathogenic g.99012939C>T g.98396476C>T CNGA3 1306C>T, Arg436Trp - CNGA3_000039 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0397 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Both (homozygous) ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 7 ; number of affected individuals: 8; segregation analysis: both parents: 2, one parent or other relatives: 1; no segregation analysis possible: 5 - - - - - - - - 1 LOVD
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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: 1, one parent or other relatives: 0; no segregation analysis possible: 1 - - - - - - - - 1 LOVD
+/. - c.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #1 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #2 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #2 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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.1306C>T r.(?) p.(Arg436Trp) - Parent #2 ACMG pathogenic g.99012939C>T g.98396476C>T CNGA3 c.1306C>T - CNGA3_000039 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
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