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.

26 entries on 1 page. Showing entries 1 - 26.
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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     

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Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Owner     
?/. 39 c.5512C>G r.(?) p.(His1838Asp) Both (homozygous) - VUS g.94476890G>C g.94011334G>C G1961E, H1838D - ABCA4_000434 - PubMed: Burke 2012 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2012 - M yes Jordan ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5512C>G r.(?) p.(His1838Asp) Both (homozygous) - VUS g.94476890G>C g.94011334G>C G1961E, H1838D - ABCA4_000434 - PubMed: Burke 2012 - - Germline ? - - - - DNA PE, SEQ, SEQ-NG-R - APEX STGD1 - PubMed: Burke 2012 - F yes Jordan ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - VUS g.94476890G>C g.94011334G>C c.[5512C>G; 5882G>A] - ABCA4_000434 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - VUS g.94476890G>C g.94011334G>C c.[5512C>G; 5882G>A] - ABCA4_000434 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic g.94476890G>C g.94011334G>C c.5512C>G - ABCA4_000434 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - VUS g.94476890G>C g.94011334G>C c.5512C>G, c.5882G>A, - ABCA4_000434 - PubMed: Miraldi 2014 - - Germline ? - - - - DNA PCR, PE, SEQ - APEX STGD1 - PubMed: Miraldi 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic g.94476890G>C g.94011334G>C c.5512 C>G - ABCA4_000434 - PubMed: Zaneveld 2015 - - Germline ? - - - - DNA SEQ-NG-I, SEQ, arrayCGH - - STGD1 - PubMed: Zaneveld 2015 - ? ? Canada Canadian - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(5512c>g) p.(His1838Asp) Parent #1 ACMG likely pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.5512C>G r.(?) p.(His1838Asp) Parent #1 - pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Lionel 2018 - - Germline - - - - - DNA SEQ-NG - WGS RD 28771251-Pat08 PubMed: Lionel 2018 - M - Canada - - - - - 1 Johan den Dunnen
?/. - c.5512C>G r.(?) p.(His1838Asp) Unknown - VUS g.94476890G>C g.94011334G>C - - ABCA4_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat3 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat28 PubMed: Birtel 2018 family F - Germany - - - - - 1 LOVD
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C p.His1838Asp - ABCA4_000434 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 3 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C p.His1838Asp - ABCA4_000434 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 28 PubMed: Birtel 2018 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C c.5512C>G p.(H1838D) - ABCA4_000434 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 519 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C het c.5512C>G p.His1838Asp - ABCA4_000434 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 44 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C het c.5512C>G p.His1838Asp - ABCA4_000434 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 49 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C het c.5512C>G p.His1838Asp - ABCA4_000434 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 74 PubMed: Gliem 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C c.5882G>A p.(Gly1961Glu) Het c.5512C>G p.(His1838Asp) Het - ABCA4_000434 - PubMed: Méjécase 2020 - - Unknown - - - - - DNA ? - - retinal disease Family 28 PubMed: Méjécase 2020 - - ? United Arab Emirates Dubai - - - - 1 Stéphanie Cornelis
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 - likely pathogenic (recessive) g.94476890G>C - c.5512C>G/p.(His1838Asp) //c.5882G<A/p.(Gly1961Gln) - ABCA4_000434 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 28 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Both (homozygous) ACMG likely pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat149 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 39 c.5512C>G r.(?) p.(His1838Asp) Parent #1 ACMG likely pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat324 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0499 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+?/. - c.5512C>G r.(?) p.(His1838Asp) Unknown - likely pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SSCA, SEQ - - retinal disease L-0648 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.5512C>G r.(?) p.(His1838Asp) Both (homozygous) ACMG pathogenic (recessive) g.94476890G>C g.94011334G>C - - ABCA4_000434 ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-229 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
?/. 39 c.5512C>G r.(5512c>g) p.(His1838Asp) Parent #1 ACMG VUS g.94476890G>C g.94011334G>C - - ABCA4_000434 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - - - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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