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.

64 entries on 1 page. Showing entries 1 - 64.
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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.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F yes Israel Jewish-Oriental - - - - 2 Dror Sharon
+/. 7 c.1585G>A r.(?) p.(Val529Met) - Maternal (confirmed) - pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M no Israel Jewish-Oriental - - - - 1 Dror Sharon
+/. 7 c.1585G>A r.(?) p.(Val529Met) - Unknown - pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - F no Israel Arab-Muslim - - - - 1 Dror Sharon
+/. 7 c.1585G>A r.(?) p.(Val529Met) - Maternal (confirmed) - pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - Sharon, submitted - - Germline - - - - - DNA SEQ - - ACHM3 - Sharon, submitted - M yes Israel Jewish-Oriental - - - - 2 Dror Sharon
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1585G>A r.(?) p.(Val529Met) - Unknown ACMG pathogenic g.99013218G>A - - - CNGA3_000053 - PubMed: Sharon 2019 - - Germline - 17/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 17 IRD families - - Israel - - - - - 17 Global Variome, with Curator vacancy
+/. - c.1585G>A r.(?) p.(Val529Met) - Unknown ACMG pathogenic g.99013218G>A - - - CNGA3_000053 - 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.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A - p.V529M - CNGA3_000053 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. 8 c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic (recessive) g.99013218G>A - p.V529M - CNGA3_000053 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease LH19 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT82 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT127 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT875 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT382 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT415 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT549 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT643 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT694 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Unknown - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT942 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease QT978 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Li 2014, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ - - retinal disease QT1062 PubMed: Li 2014, PubMed: Huang 2016 see paper ... - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic (recessive) g.99013218G>A g.98396755G>A - - CNGA3_000053 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT1310 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[62C>G];[1585G>A] - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 15732 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[512G>A];[1585G>A] - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 11787 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[542A>G];[1585G>A] - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 11062 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[1124A>G];[1585G>A] - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 5340 PubMed: Sun 2020 - M - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Unknown - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1163G>A(;)1585G>A - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 18659 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[1585G>A];[1585G>A] - CNGA3_000053 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 9733 PubMed: Sun 2020 early childhood onset defined as younger than 8y M - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[1585G>A];[1585G>A] - CNGA3_000053 homozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 16260 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[1585G>A];[1585G>A] - CNGA3_000053 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 16260 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. 7 c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A allele 1/2: R410W/V529M - CNGA3_000053 heterozygous PubMed: Wissinger 2001 - - Germline yes - - - - DNA SEQ, SSCA blood direct DNA sequencing or SSCP retinal disease CHRO15/M PubMed: Wissinger 2001 - F - Germany - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0010-4 PubMed: Zelinger 2015 - - yes Israel Iranian Jewish - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0012-1 PubMed: Zelinger 2015 - - no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1642G>A - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0013-2 PubMed: Zelinger 2015 - - no Israel Iraqi Jewish - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0176-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0183-4 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0183-5 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0254-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0254-3 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0254-5 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0328-1 PubMed: Zelinger 2015 - - no Israel Jewish (Iraq, Kurdistan I Iran) - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1294delG - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0340-1 PubMed: Zelinger 2015 - - no Israel Jewish (Kurdistan, Iraq I Iran) - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1294delG - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0340-2 PubMed: Zelinger 2015 - - no Israel Jewish (Kurdistan, Iraq I Iran) - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.940_942delATC - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0438-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0529-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0529-5 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0738-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0834-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.1585G>A - CNGA3_000053 homozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0891-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A/c.1585G>A - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0963-1 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 - likely pathogenic g.99013218G>A g.98396755G>A c.1585G>A I c.940_942delATC - CNGA3_000053 heterozygous PubMed: Zelinger 2015y - - Germline yes - - - - DNA SEQ blood - retinal disease RD135-1 PubMed: Zelinger 2015 - - no Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A c.904A>G I c.1585G>A - CNGA3_000053 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0332 II:3 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A c.1640T>G I c.1585G>A - CNGA3_000053 heterozygous PubMed: Zelinger 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease MOL0332 III:4 PubMed: Zelinger 2015 - - yes Israel Arab-Muslim - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 nt1625 G>A (exon 7), Val529Met - CNGA3_000053 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR15_II:5 PubMed: Kohl 1998 - M - Germany - - - - - 1 LOVD
+?/. - c.1585G>A r.(?) p.(Val529Met) - Parent #2 - likely pathogenic g.99013218G>A g.98396755G>A CNGA3 nt1625 G>A (exon 7), Val529Met - CNGA3_000053 old nucleotide numbering system, c. annotations extrapolated from literature and databases PubMed: Kohl 1998 - - Germline yes - - - - DNA SEQ - - retinal disease ACHR15_II:6 PubMed: Kohl 1998 - F - Germany - - - - - 1 LOVD
+/. - c.1585G>A r.(?) p.(Val529Met) - Parent #1 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.[458C>T;1585G>A] - CNGA3_000053 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.1585G>A r.(?) p.(Val529Met) - Parent #2 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 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: 1, one parent or other relatives: 0; no segregation analysis possible: 0 - - - - - - - - 1 LOVD
+/. - c.1585G>A r.(?) p.(Val529Met) - Both (homozygous) ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 homozygous 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.1585G>A r.(?) p.(Val529Met) - Parent #2 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 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.1585G>A r.(?) p.(Val529Met) - Parent #2 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 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.1585G>A r.(?) p.(Val529Met) - Parent #2 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 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.1585G>A r.(?) p.(Val529Met) - Parent #2 ACMG pathogenic g.99013218G>A g.98396755G>A CNGA3 c.1585G>A - CNGA3_000053 heterozygous PubMed: Solaki 2022 - - Germline - - - - - 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.1585G>A r.(?) p.(Val529Met) - Unknown ACMG pathogenic g.99013218G>A g.98396755G>A - - CNGA3_000053 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-c.1585G>A rs104893619 Germline yes - - - - DNA SEQ-NG-I - - retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness 3312285 Villafuerte-de la Cruz RA, et al., 2023. Submitted - F no Mexico Hispanic - - - - 1 Rocio Villafuerte-de la Cruz
+/. - c.1585G>A r.(?) p.(Val529Met) - Unknown - pathogenic g.99013218G>A - - - CNGA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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