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.

30 entries on 1 page. Showing entries 1 - 30.
Legend   How to query  

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     
?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - VUS g.94476424C>T g.94010868C>T Met1882Ile ATG>ATA - ABCA4_000418 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Zernant 2011, PubMed: Burke 2014 - - Germline ? - - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011, PubMed: Burke 2014 - F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic g.94476424C>T g.94010868C>T p.M1882I - ABCA4_000418 - PubMed: Duncker 2015 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-I - APEX ? - PubMed: Duncker 2015 - M ? - Indian - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Xin 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected F ? China ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Maternal (inferred) - likely pathogenic g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Xin 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - M ? China ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Paternal (confirmed) - likely pathogenic g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Xin 2015 - - Germline - - - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 - F ? China ? - - - - 1 Stéphanie Cornelis
+/. 40 c.5646G>A r.(5646g>a) p.(Met1882Ile) Parent #1 ACMG pathogenic (recessive) g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5646G>A r.(?) p.(Met1882Ile) Parent #1 - likely pathogenic (recessive) g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Pakistani - - - - 29 Jana Zernant
?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Both (homozygous) - VUS g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P44 PubMed: Hu 2019 - M ? China Asian - - no none 1 Fangyuan Hu
?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - VUS g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P58 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Parent #1 - VUS g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ-NG peripheral blood gene panel STGD1 P68 PubMed: Hu 2019 - F no China Asian - - no none 1 Fangyuan Hu
+?/. - c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - likely pathogenic g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 802 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Maternal (inferred) - likely pathogenic (recessive) g.94476424C>T g.94010868C>T NM_000350.2; c.5646G>A; p.Met1882Ile - ABCA4_000418 - PubMed: Zhang 2016 - - Unknown yes - - - - DNA SEQ-NG - WES retinal disease K206–2 PubMed: Zhang 2016 sibling of K206–1 and K206–3 F ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Maternal (inferred) - likely pathogenic (recessive) g.94476424C>T g.94010868C>T NM_000350.2; c.5646G>A; p.Met1882Ile - ABCA4_000418 - PubMed: Zhang 2016 - - Unknown yes - - - - DNA SEQ-NG - WES retinal disease K206–1 PubMed: Zhang 2016 sibling of K206–2 and K206–3 M ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Maternal (inferred) - likely pathogenic (recessive) g.94476424C>T g.94010868C>T NM_000350.2; c.5646G>A; p.Met1882Ile - ABCA4_000418 - PubMed: Zhang 2016 - - Unknown yes - - - - DNA SEQ-NG - WES retinal disease K206–3 PubMed: Zhang 2016 sibling of K206–1 and K206–2 M ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Both (homozygous) - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P44 PubMed: Hu 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P68 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T NM_000350:exon40:c.5646G>A:p.M1882I - ABCA4_000418 - PubMed: Chen 2020 - - Unknown - - - - - DNA SEQ-NG - TES retinal disease F11-II-1 PubMed: Chen 2020 - F no Taiwan Taiwan - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A, p.Met1882Ile Heterozygous - ABCA4_000418 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3751-4570 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - likely pathogenic (recessive) g.94476424C>T g.94010868C>T p.M1882I - ABCA4_000418 - PubMed: Jiang 2016 - - Unknown yes - - - - DNA PCR, SEQ - - retinal disease 10067 PubMed: Jiang 2016 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T M18821 - ABCA4_000418 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 21 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T p.(M1882I) - ABCA4_000418 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90155 PubMed: Lee 2017 - M ? - Pakistan - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A Met1882Ile ATG>ATA - ABCA4_000418 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 802 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 - PubMed: Hu 2019 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P58 PubMed: Hu 2019 - F ? China China - - - - 1 Stéphanie Cornelis
+?/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - likely pathogenic (recessive) g.94476424C>T g.94010868C>T c.5646G>A - ABCA4_000418 no segregation analysis done PubMed: Sung 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease F15** P17 PubMed: Sung 2020 spouse of P16 - ? - Han - - - - 1 Stéphanie Cornelis
+/. 40 c.5646G>A r.(?) p.(Met1882Ile) Unknown - pathogenic g.94476424C>T - c.5646G>A - ABCA4_000418 - PubMed: Yi-2012 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Yi-2012 - F - China - - - - - 1 LOVD
+/. - c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - pathogenic (recessive) g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+/. - c.5646G>A r.(?) p.(Met1882Ile) Parent #2 - pathogenic (recessive) g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
?/. - c.5646G>A r.(?) p.(Met1882Ile) Unknown - benign (!) g.94476424C>T g.94010868C>T ABCA4 5646G>A - ABCA4_000418 genotype AA and allele A in 5646G>A polymorphism and smoking significantly increased the risk of AMD (OR=4.753, 95% CI=1.249-18.085; OR=1.944, 95% CI=1.209-3.126) PubMed: Wu 2015 - - Unknown ? - - - - DNA ? - - ARMD ? PubMed: Wu 2015 case-control study: smoking and ABCA4 alleles as AMD risk M;F - - - - - - - 1 LOVD
+/. - c.5646G>A r.(?) p.(Met1882Ile) Parent #1 - pathogenic (recessive) g.94476424C>T g.94010868C>T - - ABCA4_000418 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0831 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.