Full data view for gene CNGA1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - pathogenic g.47951883del - - - CNGA1_000047 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. PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749012133 Germline - 3/1196 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1196 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+/. - c.472del r.(?) p.(Leu158PhefsTer4) Unknown - pathogenic g.47951884del g.47949867del CNGA1(NM_001142564.1):c.472delC (p.L158Ffs*4) - CNGA1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - likely pathogenic g.47951884del g.47949867del c.472_472delC - CNGA1_000047 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP038 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+?/. 5 c.472del r.(?) p.(Leu158PhefsTer4) Both (homozygous) - likely pathogenic (recessive) g.47951884del g.47949867del 472delC - CNGA1_000047 not in 100 controls PubMed: Yang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP135 PubMed: Yang 2015 family M - China Han - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Unknown ACMG pathogenic g.47951884del g.47949867del - - CNGA1_000047 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_GH_0042 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
+/. 6 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) ACMG pathogenic g.47951884del g.47949867del NM_000087.3:c.265del, NP_000078.2:p.(Leu89PhefsTer4), NC_000004.11:g.47951884del - CNGA1_000047 different transcript (NM_000087.3) in publication PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016111416 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) - pathogenic g.47951884delG - c.472delC(p.Leu158Phefs*4) - CNGA1_000047 - PubMed: Chen-2013 - - Germline - - - - - DNA arraySEQ, SEQ, PCR blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Unknown - likely pathogenic g.47951884del g.47949867del c.472delC, p.Leu158Phefs4 - CNGA1_000047 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184138_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Both (homozygous) ACMG pathogenic g.47951884del g.47949867del CNGA1 c.472delC, p.(Leu158Phefs*4) - CNGA1_000047 homozygous PubMed: Dan 2020 - - Germline yes - - - - DNA SEQ-NG blood Panel 4 containing 370 genes retinal disease 58 PubMed: Dan 2020 - M ? China - - - - - 1 LOVD
+/. 5 c.472del r.(?) p.(Leu158Phefs*4) Unknown ACMG pathogenic g.47951884del g.47949867del CNGA1 c.472delC, p.(Leu158Phefs*4) - CNGA1_000047 heterozygous PubMed: Dan 2020 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood Panel 3 containing 78 genes retinal disease 16 PubMed: Dan 2020 - F ? China - - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Paternal (inferred) - likely pathogenic g.47951884del g.47949867del CNGA1 c.265del, p.L89Ffs*4 - CNGA1_000047 different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous PubMed: Jin 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Jin 2016 - F - China - - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Paternal (inferred) - likely pathogenic g.47951884del g.47949867del CNGA1 c.265del, p.L89Ffs*4 - CNGA1_000047 different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous PubMed: Jin 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Jin 2016 - F - China - - - - - 1 LOVD
+?/. 6 c.472del r.(?) p.(Leu158Phefs*4) Parent #2 - likely pathogenic g.47951884del g.47949867del CNGA1 c.265delC, p.L89fs - CNGA1_000047 different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous PubMed: Wang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease II:3 PubMed: Wang 2016 - M - China - - - - - 1 LOVD
+?/. 6 c.472del r.(?) p.(Leu158Phefs*4) Parent #2 - likely pathogenic g.47951884del g.47949867del CNGA1 c.265delC, p.L89fs - CNGA1_000047 different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous PubMed: Wang 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease II:1 PubMed: Wang 2016 - M - China - - - - - 1 LOVD
+?/. 6 c.472del r.(?) p.(Leu158Phefs*4) Maternal (confirmed) - likely pathogenic g.47951884del g.47949867del CNGA1 .c.472delC, p.(L158Ffs*4) - CNGA1_000047 heterozygous PubMed: Gao 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ - - retinal disease II:3 PubMed: Gao 2018 - F - China - - - - - 1 LOVD
+?/. - c.472del r.(?) p.(Leu158Phefs*4) Unknown - likely pathogenic g.47951884del g.47949867del CNGA1(NM_001142564.1):c.829G>A (p.D277N)/c.472delC(p.L158Ffs*4) - CNGA1_000047 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 168 - - - DNA SEQ-NG-I blood - ? WHP68 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+/. - c.477del r.(?) p.(Phe159Leufs*3) Unknown - pathogenic g.47951883del g.47949866del - - CNGA1_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs749012133 Germline - 5/1196 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1196 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
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