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.

21 entries on 1 page. Showing entries 1 - 21.
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     
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic g.94476853A>G g.94011297A>G c.5549T>C - ABCA4_000429 - PubMed: Riveiro-Alvarez 2013 - - Germline ? 1, 121164, 0, 0.000008253 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(5549u>c) p.(Leu1850Pro) Parent #1 ACMG likely pathogenic (recessive) g.94476853A>G g.94011297A>G - - ABCA4_000429 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #1 - likely pathogenic g.94476853A>G g.94011297A>G - - ABCA4_000429 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #2 - pathogenic (recessive) g.94476853A>G g.94011297A>G - - ABCA4_000429 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat8 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. - c.5549T>C r.(?) p.(Leu1850Pro) Parent #2 - likely pathogenic g.94476853A>G g.94011297A>G - - ABCA4_000429 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 754 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown ACMG likely pathogenic g.94476853A>G - - - ABCA4_000429 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G Codon 1850 CTG-CCG Leu-Pro - ABCA4_000429 no variant 2nd chromosome PubMed: Aguirre-Lambán 2010 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 208 PubMed: Aguirre-Lambán 2010 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(L1850P) - ABCA4_000429 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 522 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T.C p.Leu1850Pro - ABCA4_000429 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P22 PubMed: Tanna 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #1 - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(Leu1850Pro) - ABCA4_000429 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0966 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Both (homozygous) - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(Leu1850Pro) - ABCA4_000429 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1130 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #1 - likely pathogenic (recessive) g.94476853A>G g.94011297A>G p.Leu1850Pro - ABCA4_000429 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 8 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #2 - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C Leu1850Pro CTG>CCG - ABCA4_000429 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 754 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G het c.5549T>C p.Leu1850Pro - ABCA4_000429 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 18 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Parent #2 - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(Leu1850Pro) - ABCA4_000429 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0780 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(Leu1850Pro) - ABCA4_000429 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1007 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G c.5549T>C p.(Leu1850Pro) - ABCA4_000429 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1228 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G - c.5549T>C - ABCA4_000429 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 66826 PubMed: Khan 2019PubMed: Khan 2020 - M - - - - - - - 1 LOVD
+?/. - c.5549T>C r.(?) p.(Leu1850Pro) Parent #1 - likely pathogenic (recessive) g.94476853A>G g.94011297A>G - - ABCA4_000429 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-1044 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.5549T>C r.(?) p.(Leu1850Pro) Unknown - likely pathogenic (recessive) g.94476853A>G g.94011297A>G - - ABCA4_000429 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-246 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.5549T>C r.(?) p.(Leu1850Pro) Unknown ACMG likely pathogenic g.94476853A>G g.94011297A>G - - ABCA4_000429 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 066826 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
Legend   How to query  


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