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.

35 entries on 1 page. Showing entries 1 - 35.
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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     

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Owner     
+?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - likely pathogenic g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Glockle 2014 - - Germline - ExAC 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-S - - CORD - PubMed: Glockle 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 - PubMed: Riveiro-Alvarez 2013 - - Germline - 2, 121412, 0, 0.00001647 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 41 c.5761G>A r.(5761g>a) p.(Val1921Met) Parent #1 ACMG pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 41 c.5761G>A r.(?) p.(Val1921Met) Parent #1 - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood - STGD1 P2 PubMed: Hu 2019 - F yes China Asian 25y - yes none 1 Fangyuan Hu
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Parent #2 - VUS g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG - gene panel STGD1 P51 PubMed: Hu 2019 - M no China Asian - - no none 1 Fangyuan Hu
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Parent #1 - VUS g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P66 PubMed: Hu 2019 - M ? China Asian - - no none 1 Fangyuan Hu
+?/. - c.5761G>A r.(?) p.(Val1921Met) Parent #1 - likely pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12000333 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A (p.Val1921Met) - ABCA4_000410 no variant 2nd chromosome PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 4638 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P2 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P66 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761C>T p.(Val1921Met) - ABCA4_000410 - PubMed: Wang 2019 - - Unknown - - - - - DNA SEQ-NG-I - OTSP retinal disease #14214 PubMed: Wang 2019 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F04 P04 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Parent #2 - VUS g.94474381C>T g.94008825C>T p.V1921M - ABCA4_000410 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10033 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T ABCA4 c.5761G>A, p.(Val1921Met) - ABCA4_000410 - PubMed: Taylor 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 12000333 PubMed: Taylor 2017 - F ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P51 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A013 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A p.(Val1921Met) - ABCA4_000410 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0456 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5861G>A/p.V1921M - ABCA4_000410 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 347 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F05 P05 PubMed: Sung 2020 - - ? - Han - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F24 P27 PubMed: Sung 2020 sibling of P28 - ? - Han - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A - ABCA4_000410 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F24 P28 PubMed: Sung 2020 sibling of P27 - ? - Han - - - - 1 Stéphanie Cornelis
?/. 41 c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T c.5761G>A, p.Val1921Met Heterozygous - ABCA4_000410 - PubMed: Goetz 2020 - - Unknown - 2, 121412, 0, 0.00001647 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3307-4052 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown ACMG likely pathogenic g.94474381C>T g.94008825C>T ABCA4 c.101_106del(;)5761G>A, V1: c.5761G>A, (p.Val1921Met) - ABCA4_000410 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F266 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown ACMG VUS g.94474381C>T g.94008825C>T ABCA4 c.5761G>A(;)6118C>T, V1: c.5761G>A, (p.Val1921Met) - ABCA4_000410 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F044 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown ACMG VUS g.94474381C>T g.94008825C>T ABCA4 c.1804C>T(;)5761G>A, V2: c.5761G>A, (p.Val1921Met) - ABCA4_000410 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F056 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T ABCA4 c.5761G>A(;)6118C>T; p.(Val1921Met) - ABCA4_000410 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F044 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown - VUS g.94474381C>T g.94008825C>T ABCA4 c.1804C>T(;)5761G>A; p.(Val1921Met) - ABCA4_000410 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F056 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+?/. - c.5761G>A r.(?) p.(Val1921Met) Unknown - likely pathogenic g.94474381C>T g.94008825C>T ABCA4 c.101_106del(;)5761G>A; p.(Val1921Met) - ABCA4_000410 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F266 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.5761G>A r.(?) p.(Val1921Met) Parent #1 - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5761G>A r.(?) p.(Val1921Met) Parent #2 - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. - c.5761G>A r.(?) p.(Val1921Met) Parent #2 - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. 41 c.5761G>A r.(?) p.(Val1921Met) Parent #2 - pathogenic g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - - retinal disease Pat22 PubMed: Huang 2022 - - - Australia - - - - - 1 Johan den Dunnen
+/. - c.5761G>A r.(?) p.(Val1921Met) Parent #2 - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0271 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.5761G>A r.(?) p.(Val1921Met) Unknown - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-107 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. - c.5761G>A r.(?) p.(Val1921Met) Unknown - pathogenic (recessive) g.94474381C>T g.94008825C>T - - ABCA4_000410 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-434 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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