Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic g.94520830G>C g.94055274G>C 2424C>G - ABCA4_000727 - PubMed: Zhou 2014 - - Germline yes - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Zhou 2014 2-generation family, two affected M ? China Henan - - - - 1 Stéphanie Cornelis
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic g.94520830G>C g.94055274G>C 2424C>G - ABCA4_000727 - PubMed: Zhou 2014 - - Germline yes - - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Zhou 2014 2-generation family, two affected F ? China Henan - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic g.94520830G>C g.94055274G>C c.2424 C>G (c.5593 C>T) - ABCA4_000727 - PubMed: Zaneveld 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic g.94520830G>C g.94055274G>C c.2424 C>G - ABCA4_000727 - PubMed: Zaneveld 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Paternal (confirmed) - pathogenic g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Xin 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - F ? China ? - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(2424c>g) p.(Tyr808Ter) Parent #1 ACMG pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #2 - VUS g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P33 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - VUS g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P46 PubMed: Hu 2019 - F ? China Asian - - no none 1 Fangyuan Hu
+/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic (recessive) g.94520830G>C - - - ABCA4_000727 - Zixi Sun 2020,submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6007 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic (recessive) g.94520830G>C - - - ABCA4_000727 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 8667 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+?/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic (recessive) g.94520830G>C - - - ABCA4_000727 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel CORD 1411 Zixi Sun 2020,submitted - M - China - - - - - 1 Zixi Sun
+/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic g.94520830G>C - - - ABCA4_000727 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD R03 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic g.94520830G>C - - - ABCA4_000727 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6686 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10006 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10031 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10039 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10058 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10077 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10129 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10143 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10162 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10165 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 13017 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19442 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease A1120 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Both (homozygous) - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10163 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P46 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A008 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A021 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A035 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C c.[2424G>C]; - ABCA4_000727 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - - retinal disease RH4-II:6 PubMed: Liu 2015 a brother and sister are affected as well M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F18 P20 PubMed: Sung 2020 sibling of P21 - ? - Han - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F18 P21 PubMed: Sung 2020 sibling of P20 - ? - Han - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 1411 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3625 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 4367 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6007 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6501 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6686 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8667 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease S67 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C p.Y808X - ABCA4_000727 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10062 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G - ABCA4_000727 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P33 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6561 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7565 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 7565-1 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G p.(Tyr808*) - ABCA4_000727 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease R03 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. - c.2424C>G r.(?) p.(Tyr808Ter) Unknown - likely pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP056 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+?/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic g.94520830G>C - - - ABCA4_000727 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - STGD IR_GH_0167 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
+/. - c.2424C>G r.(?) p.(Tyr808*) Paternal (confirmed) ACMG pathogenic (recessive) g.94520830G>C g.94055274G>C c.2424C>G, p.Y808* - ABCA4_000727 Heterozygous PubMed: Tao 2020 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted panel-based next-generation sequencing, 441 hereditary eye disease genes retinal disease P06 PubMed: Tao 2020 - M - China - - - - - 1 LOVD
+/. - c.2424C>G r.(2424c>g) p.(Tyr808*) Maternal (confirmed) ACMG pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010565 PubMed: Tian 2022, PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(2424c>g) p.(Tyr808*) Parent #2 ACMG pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010611 PubMed: Tian 2022, PubMed: Tian 2024 - M no China - - - - - 1 Lu Tian
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Both (homozygous) - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M yes - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 16 c.2424C>G r.(?) p.(Tyr808*) Unknown - likely pathogenic (recessive) g.94520830G>C - c.2424C>G - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. - c.2424C>G r.(?) p.(Tyr808*) Unknown ACMG pathogenic g.94520830G>C g.94055274G>C ABCA4 c.2424C>G(;)6146del, V2: c.2424C>G, (p.Tyr808Ter) - ABCA4_000727 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F196 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Unknown - pathogenic g.94520830G>C g.94055274G>C ABCA4 c.2424C>G(;)6146del; p.(Tyr808Ter) - ABCA4_000727 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.00033; GnomAD_exome_East: 0; GnomAD_All: 0 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F196 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Both (homozygous) - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Both (homozygous) - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #1 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.2424C>G r.(?) p.(Tyr808Ter) Parent #2 - pathogenic (recessive) g.94520830G>C g.94055274G>C - - ABCA4_000727 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 16 c.2424C>G r.(?) p.(Tyr808*) Parent #1 - pathogenic (recessive) g.94520830G>C - CRB1:c.2424C>G (Tyr808*) - ABCA4_000727 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
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