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.
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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     

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Owner     
+?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - likely pathogenic g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Oishi 2014 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Simonelli 2000 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA SSCA, HD - - ? - PubMed: Simonelli 2000 3-generation family, 1 affected F ? Italy Italian, south - - - - 1 Stéphanie Cornelis
+?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - likely pathogenic g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Rivera 2000 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - likely pathogenic g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Rivera 2000 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - likely pathogenic g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Rivera 2000 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Jaakson 2003 - - Germline - ExAC 2, 120596, 0, 0.00001658 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+/. 28 c.4195G>A r.(4195g>a) p.(Glu1399Lys) Parent #1 ACMG pathogenic (recessive) g.94496610C>T g.94031054C>T - - ABCA4_000571 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4195G>A r.(?) p.(Glu1399Lys) Unknown - pathogenic g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs62642573 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Parent #1 - pathogenic (recessive) g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat24 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
+/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Parent #1 - pathogenic (recessive) g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat35 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T p.Glu1399Lys - ABCA4_000571 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 24 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T p.Glu1399Lys - ABCA4_000571 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 35 PubMed: Birtel 2018 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 16 PubMed: Scholl 2001 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Scholl 2001PubMed: Reinhard 2007 - - Unknown - - - - - DNA SEQ - - retinal disease 28; 19 PubMed: Scholl 2001PubMed: Reinhard 2007 - F no Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T E1399K - ABCA4_000571 - PubMed: Reinhard 2007 - - Unknown - - - - - DNA DGGE, DHPLC, SSCA - - retinal disease 11 PubMed: Reinhard 2007 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Parent #1 - VUS g.94496610C>T g.94031054C>T c.4195G>A - ABCA4_000571 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 19 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A p.(E1399K) - ABCA4_000571 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 464 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.3195G>A/p.(Glu1399Lys) - ABCA4_000571 - PubMed: Müller 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 11 PubMed: Müller 2020 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A p.(Glu1399Lys) - ABCA4_000571 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1270 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A p.Glu1399Lys het - ABCA4_000571 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-083-096 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A p.Glu1399Lys het - ABCA4_000571 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-090-174 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A, p.Glu1399Lys Heterozygous - ABCA4_000571 - PubMed: Goetz 2020 - - Unknown - 2, 120596, 0, 0.00001658 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2622-3280 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A, p.Glu1399Lys Heterozygous - ABCA4_000571 - PubMed: Goetz 2020 - - Unknown - 2, 120596, 0, 0.00001658 - - - DNA SEQ - - retinal disease 6242-7690 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Parent #2 - VUS g.94496610C>T g.94031054C>T c.4195G>A - ABCA4_000571 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 18 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A/p.E1399K - ABCA4_000571 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 587 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T g.94031054C>T c.4195G>A, p.Glu1399Lys Heterozygous - ABCA4_000571 - PubMed: Goetz 2020 - - Unknown - 2, 120596, 0, 0.00001658 - - - DNA SEQ - - retinal disease 5355-6467 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Parent #1 - likely pathogenic (recessive) g.94496610C>T - c.3195G>A/p.(Glu1399Lys) - ABCA4_000571 - PubMed: Müller 2020 - - Unknown ? - - - - DNA SEQ, MLPA, SEQ-NG - - retinal disease 11 PubMed: Müller 2020 - F ? Germany - - - - - 1 LOVD
?/. 28 c.4195G>A r.(?) p.(Glu1399Lys) Unknown - VUS g.94496610C>T - c.4195G>A - ABCA4_000571 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70537 PubMed: Khan 2020 - F - Italy - - - - - 1 LOVD
+/. - c.4195G>A r.(?) p.(Glu1399Lys) Parent #1 - pathogenic (recessive) g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0789 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4195G>A r.(?) p.(Glu1399Lys) Unknown - pathogenic (recessive) g.94496610C>T g.94031054C>T - - ABCA4_000571 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-18 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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