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.

111 entries on 2 pages. Showing entries 1 - 100.
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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.1641C>A r.(?) p.(Phe547Leu) - Unknown - pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893617 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
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Unknown ACMG pathogenic g.99013274C>A - - - CNGA3_000044 - PubMed: Sharon 2019 - - Germline - 6/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 6 IRD families - - Israel - - - - - 6 Global Variome, with Curator vacancy
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A - Phe547Leu/Phe547Leu - CNGA3_000044 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A - Phe547Leu/Phe547Leu - CNGA3_000044 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Matet 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat6 PubMed: Matet 2018 - F yes India India - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic (recessive) g.99013274C>A g.98396811C>A NM_001079878:c.1587C>A - CNGA3_000044 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat24 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13009042 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Greenberg 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat6 PubMed: Greenberg 2014 patient - - United States - - - - - 1 LOVD
+?/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Unknown - likely pathogenic g.99013274C>A - c.1641C>A (p.F547L) - CNGA3_000044 - PubMed: Thiadens_2009 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Thiadens_2009 - - - Netherlands - - - - - 1 LOVD
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) ACMG pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 - Tracewska 2021, MolVis in press - - Germline yes 0,00049 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 313 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Paternal (confirmed) ACMG pathogenic g.99013274C>A g.98396811C>A - - CNGA3_000044 - Tracewska 2021, MolVis in press - - Germline yes 0,00049 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 487 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A c.1641C-->A; p.Phe547Leu - CNGA3_000044 confirmed with Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - ACHM2 89 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A c.1641C-->A; p.Phe547Leu - CNGA3_000044 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood - ACHM2 272 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.778G>A/p.D260N - CNGA3_000044 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET5 targeted sequencing panel - see paper retinal disease 530 PubMed: Weisschuh 2020 Filing key number: 180, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.1682G>A/p.G561E - CNGA3_000044 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET1 targeted sequencing panel - see paper retinal disease 1095 PubMed: Weisschuh 2020 Filing key number: 733, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.1641C>A/p.F547L, variant 2: c.1641C>A/p.F547L - CNGA3_000044 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1171 PubMed: Weisschuh 2020 Filing key number: 846, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L - CNGA3_000044 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ blood Sanger sequencing retinal disease 19 PubMed: Weisschuh 2020 Filing key number: 11, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.872C>G/p.T291R, variant 2: c.1641C>A/p.F547L - CNGA3_000044 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 20 PubMed: Weisschuh 2020 Filing key number: 11, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3, variant 1: c.1255T>C/p.S419P, variant 2: c.1641C>A/p.F547L - CNGA3_000044 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1154 PubMed: Weisschuh 2020 Filing key number: 821, achromatopsia, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A g.98396811C>A C>T Phe547Leu - CNGA3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamBPatI1 PubMed: Varsanyi 2005 - F - Hungary - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A g.98396811C>A C>T Phe547Leu - CNGA3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamFPatII1 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - pathogenic (recessive) g.99013274C>A g.98396811C>A C>T Phe547Leu - CNGA3_000044 - PubMed: Varsanyi 2005 - - Germline - - - - - DNA SEQ - - retinal disease FamDPatII1 PubMed: Varsanyi 2005 - M - Hungary - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat7 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat9 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat5 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 - PubMed: Wawrocka 2014 - - Germline - - - - - DNA SEQ - - retinal disease Pat6 PubMed: Wawrocka 2014 - - - Poland - - - - - 1 Johan den Dunnen
?/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - VUS g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - VUS g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - VUS g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 8 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - VUS g.99013274C>A - c.1641C>A - CNGA3_000044 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/E194K - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO235/1-1 PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO105/S PubMed: Wissinger 2001 - M - Turkey - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO113/J PubMed: Wissinger 2001 - M - Pakistan - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Unknown - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/? - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO180/T PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: N182Y/F547L - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO178/M PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: R277C/F547L - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: R436W/F547L - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: T291R/F547L - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO11/L PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: T291R/F547L - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO11/W PubMed: Wissinger 2001 - M - Germany - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: I522T/F547L - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Unknown ? - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO171/M PubMed: Wissinger 2001 - M - Netherlands - - - - - 1 LOVD
+?/. 7 c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: R563H/F547L - CNGA3_000044 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease ZD53/Ah PubMed: Wissinger 2001 - F - Turkey - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R23X - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO440 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/Vl60G - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO497 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R277C - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO361 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R277C - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO499 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R283W - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO115 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R283W - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO300 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/R283W - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO540 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/C319fsX - CNGA3_000044 heterozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO513 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO363-1 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO363-2 PubMed: Reuter 2008 - F - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO384 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO542 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1/2: F547L/F547L - CNGA3_000044 homozygous PubMed: Reuter 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO538 PubMed: Reuter 2008 - M - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A allele 1: c.1641C>A, p.F547L, allele 2: c.1641C>A, p.F547L - CNGA3_000044 homozygous PubMed: Thomas 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease 3 PubMed: Thomas 2012 - ? yes - - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu) - CNGA3_000044 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A3 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A c.667C>T (p.Arg223Trp) /c.1641C>A (p.Phe547Leu) - CNGA3_000044 heterozygous PubMed: Fahim 2013 - - Unknown ? - - - - DNA SEQ blood - retinal disease A4 PubMed: Fahim 2013 - ? - - - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Unknown - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A, (p.Phe547Leu) - CNGA3_000044 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 6 PubMed: Matet 2018 - F yes France Indian - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Unknown - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A, (p.Phe547Leu) - CNGA3_000044 - PubMed: Matet 2018 - - Unknown ? - - - - DNA SEQ-NG - tagreted next-generation sequencing retinal disease 6 PubMed: Matet 2018 - F yes France Indian - - - - 1 LOVD
+?/. p.(Phe547Leu) c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 1641C>A, Phe547Leu - CNGA3_000044 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_0626 PubMed: Georgiou 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Phe547Leu) c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 1641C>A, Phe547Leu - CNGA3_000044 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0358 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Phe547Leu) c.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 1641C>A, Phe547Leu - CNGA3_000044 homozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease MM_0445 PubMed: Georgiou 2019 - M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. p.(Phe547Leu) c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 1641C>A, Phe547Leu - CNGA3_000044 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease JC_10008 PubMed: Georgiou 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 nt1681 C>A (exon 7), Phe547Leu - CNGA3_000044 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR11_1 PubMed: Kohl 1998 sibling of ACHR11_2 - - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 nt1681 C>A (exon 7), Phe547Leu - CNGA3_000044 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR11_2 PubMed: Kohl 1998 sibling of ACHR11_1 - - Germany - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 FS47L - CNGA3_000044 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_1025 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 FS47L - CNGA3_000044 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_683 PubMed: Kellner 2004 - M - - - - - - - 1 LOVD
+?/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #2 - likely pathogenic g.99013274C>A g.98396811C>A CNGA3 FS47L - CNGA3_000044 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F137_682 PubMed: Kellner 2004 - F - - - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 double 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.1641C>A r.(?) p.(Phe547Leu) - Both (homozygous) ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 homozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 20 ; number of affected individuals: 23; segregation analysis: both parents: 7, one parent or other relatives: 6; no segregation analysis possible: 10 - - - - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 heterozygous PubMed: Solaki 2022 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 5 ; number of affected individuals: 6; segregation analysis: both parents: 4, one parent or other relatives: 0; no segregation analysis possible: 2 - - - - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 heterozygous PubMed: Solaki 2022 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Solaki 2022 number of independent families: 1 ; number of affected individuals: 3; segregation analysis: both parents: 0, one parent or other relatives: 3; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Parent #1 ACMG pathogenic g.99013274C>A g.98396811C>A CNGA3 c.1641C>A - CNGA3_000044 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.1641C>A r.(?) p.(Phe547Leu) - Unknown ACMG pathogenic (recessive) g.99013274C>A g.98396811C>A - - CNGA3_000044 ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 9478 - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1291 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
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