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.

73 entries on 1 page. Showing entries 1 - 73.
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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     

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Panel size     

Owner     
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Both (homozygous) - pathogenic g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Zaneveld 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? China Chinese - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Maternal (inferred) - pathogenic g.94528868del g.94063312del c.1560delG - ABCA4_000304 - PubMed: Xin 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - F ? China ? - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(1561del) p.(Val521SerfsTer47) Parent #1 ACMG pathogenic (recessive) g.94528868del g.94063312del - - ABCA4_000304 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #2 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood - STGD1 P30 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P31 PubMed: Hu 2019 - F no China Asian - - - none 1 Fangyuan Hu
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P34 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #2 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P73 PubMed: Hu 2019 - F - China Asian - - no none 1 Fangyuan Hu
+/. - c.1561del r.(?) p.(Val521Serfs*47) Maternal (confirmed) - pathogenic g.94528868del g.94063312del 1561delG - ABCA4_000304 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 148 - - M no China - >15y - - - 1 Handong Dan
+?/. 12 c.1561del r.(?) p.(Val521Serfs*47) Paternal (confirmed) other pathogenic (recessive) g.94528868del - 1561delG - ABCA4_000304 - - - - Germline yes - - - - DNA SEQ-NG peripheral blood gene panel STGD1 F1:Ⅱ:2 - - F no China Asian >19y - yes none 1 Fangyuan Hu
+/. - c.1561del r.(?) p.(Val521Serfs*47) Unknown ACMG pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - Zixi Sun 2020,submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6706 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. - c.1561del r.(?) p.(Val521Serfs*47) Paternal (confirmed) ACMG pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - Zixi Sun 2020, submitted - - Germline - - - - - DNA SEQ-NG - gene panel CORD 8710 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.1561del r.(?) p.(Val521Serfs*47) Maternal (confirmed) ACMG pathogenic g.94528868del - 1561delG - ABCA4_000304 no variant on 2nd allele identified - - - Germline - - - - - DNA SEQ-NG - gene panel STGD 6081 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. - c.1561del r.(?) p.(Val521Serfs*47) Unknown ACMG pathogenic g.94528868del g.94063312del 1561delG - ABCA4_000304 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 0617 Zixi Sun 2020, submitted - M - China - - - - - 1 Zixi Sun
+/. - c.1561del r.(?) p.(Val521Serfs*47) Both (homozygous) ACMG pathogenic g.94528868del g.94063312del 1561delG - ABCA4_000304 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel STGD 6012 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Paternal (confirmed) ACMG pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - - - - Unknown yes - - - - DNA SEQ-NG - gene panel STGD1 B10 - - M no China - >12y - yes none 1 Qing Zhu
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10045 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10102 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10135 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10152 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10166 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10231 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19251 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 19597 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P31 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P34 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Maternal (confirmed) - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521fs46) - ABCA4_000304 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 148 PubMed: Dan 2019 - M no China Han - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561del - ABCA4_000304 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F16 P18 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Both (homozygous) - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2470 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Both (homozygous) - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6012 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 no variant 2nd chromosome PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6081 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8710 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 617 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.Val521Serfs*47 het - ABCA4_000304 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-233 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG, p.Val521Serfs*47 Heterozygous - ABCA4_000304 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 5854-7342 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del p.V521SfsTer47 - ABCA4_000304 no segregation analysis done PubMed: Jiang 2016 - - Unknown - - - - - DNA PCR, SEQ - - retinal disease 10058 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561del (p.Val521Serfs) - ABCA4_000304 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9032 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Ciccone 2018PubMed: Chen 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 8; 34 PubMed: Ciccone 2018PubMed: Chen 2019 patient possibly reported by Zernant et al., 2011 and 2014 M ? United States Asia - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P30 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG - ABCA4_000304 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P73 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561del - ABCA4_000304 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A017 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del NM_000350.2:c.1561del - ABCA4_000304 - PubMed: Wang 2018 - - Unknown - - - - - DNA SEQ-NG-I - panel retinal disease 2016082408 PubMed: Wang 2018 - M ? China Han - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561del p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Wang 2019 - - Unknown yes - - - - DNA SEQ-NG-I - OTSP retinal disease #14663 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Hu 2020 - - Unknown - - - - - DNA arraySEQ - Target_Eye_792_V2 chip retinal disease F1:II:2 PubMed: Hu 2020 - F ? China Han - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 6706 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.(Val521Serfs*47) - ABCA4_000304 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 939 PubMed: Sun 2020 - M ? China China - - - - 1 Stéphanie Cornelis
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528868del g.94063312del c.1561delG p.Val521Serfs*47 het - ABCA4_000304 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-207-152 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - likely pathogenic (recessive) g.94528867del - c.1561delG - ABCA4_000304 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - likely pathogenic (recessive) g.94528867del - c.1561delG - ABCA4_000304 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - likely pathogenic (recessive) g.94528867del - c.1561delG - ABCA4_000304 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - likely pathogenic (recessive) g.94528867del - c.1561delG - ABCA4_000304 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.1561del r.(?) p.(Val521Serfs*47) Unknown ACMG pathogenic g.94528868del g.94063312del ABCA4 c.1561del(;)3004C>T, V1: c.1561delG, (p.Val521SerfsTer47) - ABCA4_000304 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F173 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Groselj 2012 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Both (homozygous) - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Both (homozygous) - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #1 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #2 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.1561del r.(?) p.(Val521SerfsTer47) Parent #2 - pathogenic (recessive) g.94528868del g.94063312del 1561delG - ABCA4_000304 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 12 c.1561del r.(?) p.(Val521Serfs*47) Unknown - pathogenic (recessive) g.94528867del - c.1561del - ABCA4_000304 - PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 71421 PubMed: Khan 2020 - M - - - - - - - 1 LOVD
+/. - c.1561delG r.(?) p.(Val521SerfsTer47) Unknown - pathogenic g.94528868del g.94063312del ABCA4 c.1561del(;)3004C>T; p.(Val521SerfsTer47) - ABCA4_000304 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.00000398 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F173 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
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