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.

29 entries on 1 page. Showing entries 1 - 29.
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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     

Panel size     

Owner     
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Rivera 2000 - - Germline - ExAC 2, 121276, 0, 0.00001649 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - VUS g.94577093G>A g.94111537G>A c.203C>T - ABCA4_000147 - PubMed: Rosenberg 2007 - - Germline - 2, 121276, 0, 0.00001649 - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? no - ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Passerini 2010 - - Germline ? 2, 121276, 0, 0.00001649 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Passerini 2010 - - Germline ? 2, 121276, 0, 0.00001649 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Passerini 2010 - - Germline ? 2, 121276, 0, 0.00001649 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 3 c.203C>T r.(203c>u) p.(Pro68Leu) Parent #1 ACMG pathogenic (recessive) g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Maternal (confirmed) ACMG likely pathogenic (recessive) g.94577093G>A - - - ABCA4_000147 - - - - Unknown yes - - - - DNA SEQ-NG - gene panel STGD1 B9 - - F no China - >16y - yes none 1 Qing Zhu
+?/. - c.203C>T r.(?) p.(Pro68Leu) Parent #2 - likely pathogenic g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Zolnikova 2017 - - Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P003 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Scholl 2001; PubMed: Reinhard 2007 - - Unknown - - - - - DNA SEQ - - retinal disease 15; 10 PubMed: Scholl 2001; PubMed: Reinhard 2007 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Hargitai 2005 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease 25 PubMed: Hargitai 2005 - M ? Hungary - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Reinhard 2007 - - Unknown - - - - - DNA DGGE, DHPLC, SSCA - - retinal disease 10 PubMed: Reinhard 2007 - F ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T p.P68L - ABCA4_000147 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA SEQ-NG - - retinal disease D513 PubMed: Bertelsen 2014 - M ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T p.P68L - ABCA4_000147 - PubMed: Bertelsen 2014 - - Unknown - - - - - DNA PE - APEX retinal disease D023 PubMed: Bertelsen 2014 - F ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Paternal (confirmed) - likely pathogenic (recessive) g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Sodi 2008 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease Case 1 PubMed: Sodi 2008 two siblings, one affected, one unaffected M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Paternal (confirmed) - likely pathogenic (recessive) g.94577093G>A g.94111537G>A P68L - ABCA4_000147 - PubMed: Sodi 2008 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease Case 2 PubMed: Sodi 2008 two siblings, one affected, one unaffected F ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T (p.Pro68Leu) - ABCA4_000147 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 14 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T, p.Pro68Leu Heterozygous - ABCA4_000147 - PubMed: Goetz 2020 - - Unknown - 2, 121276, 0, 0.00001649 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5242-6336 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A G1961E/P68L - ABCA4_000147 - PubMed: Huang 2014PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA ? - - retinal disease P12‡; 86 PubMed: Huang 2014PubMed: Cideciyan 2015 sibling of P15 M ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A G1961E/P68L - ABCA4_000147 - PubMed: Huang 2014PubMed: Cideciyan 2015 - - Unknown yes - - - - DNA ? - - retinal disease P15‡; 87 PubMed: Huang 2014PubMed: Cideciyan 2015 sibling of P12 M ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T Pro68Leu Heterozygous - ABCA4_000147 - PubMed: Zolnikova 2017 - - Unknown - - - - - DNA SEQ-NG - - retinal disease P003 PubMed: Zolnikova 2017 - M ? Russia Russia-Slavonia - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T - ABCA4_000147 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A034 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T p.(Pro68Leu) - ABCA4_000147 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 22 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Unknown - likely pathogenic (recessive) g.94577093G>A g.94111537G>A c.203C>T p.Pro68Leu het - ABCA4_000147 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-081-035 Prevention Genetics - - ? - Metis, English, French - - - - 1 Stéphanie Cornelis
+/. - c.203C>T r.(?) p.(Pro68Leu) Parent #1 - pathogenic (recessive) g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - M - China - - - - - 1 Lu Tian
+?/. 3 c.203C>T r.(?) p.(Pro68Leu) Maternal (inferred) ACMG pathogenic (recessive) g.94577093G>A - - - ABCA4_000147 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#39 Bianco 2023, submitted - M no Italy - - - - - 1 Lorenzo Bianco
+/. - c.203C>T r.(?) p.(Pro68Leu) Parent #1 - pathogenic (recessive) g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0030 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.203C>T r.(?) p.(Pro68Leu) Unknown - pathogenic (recessive) g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0698 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.203C>T r.(?) p.(Pro68Leu) Unknown - pathogenic (recessive) g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1075 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.203C>T r.(?) p.(Pro68Leu) Parent #2 - pathogenic g.94577093G>A g.94111537G>A - - ABCA4_000147 - PubMed: Midgley 2024 - rs62654397 Germline - - - - - DNA SEQ-NG - gene panel retinal disease Pat74 PubMed: Midgley 2024 - F - South Africa Africa-indigenous - - - - 1 Johan den Dunnen
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