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.

31 entries on 1 page. Showing entries 1 - 31.
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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     
+/. 7 c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - pathogenic g.99012564_99012566del - - - CNGA3_000050 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M yes Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 7 c.940_942del r.(?) p.(Ile314del) - Paternal (confirmed) - pathogenic g.99012564_99012566del - - - CNGA3_000050 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 7 c.940_942del r.(?) p.(Ile314del) - Unknown - pathogenic g.99012564_99012566del - - - CNGA3_000050 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. - c.940_942del r.(?) p.(Ile314del) - Unknown ACMG pathogenic g.99012573_99012575del - - - CNGA3_000050 - PubMed: Sharon 2019 - - Germline - 10/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 10 IRD families - - Israel - - - - - 10 Global Variome, with Curator vacancy
+?/. 7 c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del allele 1/2: I312del/I312del - CNGA3_000050 error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; homozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO66/G PubMed: Wissinger 2001 - M - Italy - - - - - 1 LOVD
+?/. 7 c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del allele 1/2: I312del/D485V - CNGA3_000050 error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO13/A PubMed: Wissinger 2001 - F - Haiti - - - - - 1 LOVD
+?/. 7 c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del allele 1/2: I312del/D485V - CNGA3_000050 error in annotation, incorrectly annotated as p.I312del whereas the last isoleucin should be used: p.I314del; heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO13/L PubMed: Wissinger 2001 - F - Haiti - - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 allele 1/allele 2: I315(del)/R427C - CNGA3_000050 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.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0166-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0171-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940_942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0215-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0293-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.1640T>G - CNGA3_000050 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0314-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0385-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940_942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0385-2 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0583-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940_942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0583-2 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0646-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0685-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Both (homozygous) - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.940 942delATC - CNGA3_000050 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0761-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.1454A>T - CNGA3_000050 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD0914:j::j: PubMed: Zelinger 2015 - - no United States Haitian - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.940_942delATC I c.1454A>T - CNGA3_000050 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease CHRD0915:j::j: PubMed: Zelinger 2015 - - no United States Haitian - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #2 - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.1585G>A I c.940_942delATC - CNGA3_000050 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0438-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.940_942del r.(?) p.(Ile314del) - Parent #2 - likely pathogenic g.99012573_99012575del g.98396110_98396112del c.1585G>A I c.940_942delATC - CNGA3_000050 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease RD135-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+/. - c.940_942del r.(?) p.(Ile314del) - Parent #2 ACMG pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 c.940_942del - CNGA3_000050 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.940_942del r.(?) p.(Ile314del) - Parent #2 ACMG pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 c.940_942del - CNGA3_000050 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.940_942del r.(?) p.(Ile314del) - Both (homozygous) ACMG pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 c.940_942del - CNGA3_000050 homozygous 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: 1, one parent or other relatives: 2; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.940_942del r.(?) p.(Ile314del) - Parent #1 ACMG pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 c.940_942del - CNGA3_000050 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
+/. 8 c.940_942del r.(?) p.(Ile314del) - Parent #2 ACMG pathogenic g.99012573_99012575del g.98396110_98396112del - - CNGA3_000050 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072180 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.940_942delATC r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 heterozygous c.940-942delATC, p.R661S:c.1981C>A - CNGA3_000050 - PubMed: Yang 2014 - - Unknown ? - - - - DNA SEQ blood - retinal disease 2 PubMed: Yang 2014 - F - - - - - - - 1 LOVD
+?/. p.(Ile314del) c.940_942delATC r.(?) p.(Ile314del) - Parent #1 - likely pathogenic g.99012573_99012575del g.98396110_98396112del CNGA3 940_942delATC, Ile314del - CNGA3_000050 heterozygous PubMed: Georgiou 2019 - - Unknown ? - - - - DNA ? - retrospective research retinal disease KS_10337 PubMed: Georgiou 2019 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
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