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.

44 entries on 1 page. Showing entries 1 - 44.
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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     
?/. 29i c.4352+1G>A r.spl p.? Unknown - VUS g.94495983C>T g.94030427C>T c.4353+1G>A - ABCA4_000547 - PubMed: Ernest 2009 - - Germline - 1, 121268, 0, 0.000008246 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29i c.4352+1G>A r.spl p.? Unknown - likely pathogenic g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Zernant 2011 - - Germline ? 1, 121268, 0, 0.000008246 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
-?/. 29i c.4352+1G>A r.spl p.? Unknown - likely benign g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Fujinami 2013 - - Germline ? 1, 121268, 0, 0.000008246 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 29i c.4352+1G>A r.spl p.? Paternal (inferred) - likely pathogenic g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Xin 2015 - - Germline - 1, 121268, 0, 0.000008246 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected M ? China ? - - - - 1 Stéphanie Cornelis
+?/. 29i c.4352+1G>A r.spl p.? Paternal (inferred) - likely pathogenic g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Xin 2015 - - Germline - 1, 121268, 0, 0.000008246 - - - DNA SEQ-NG-I, SEQ - - STGD1 - PubMed: Xin 2015 2-generation family, 2 affected M ? China ? - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4352+1G>A r.spl? p.? Unknown - pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 29i c.4352+1G>A r.spl p.? Parent #1 - pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+/. - c.4352+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - - - - Germline yes - - - - DNA SEQ-NG blood - STGD1 160 - - F - (China) - >12y - - - 1 Handong Dan
+?/. 29i c.4352+1G>A r.spl? p.? Unknown ACMG pathogenic g.94495983C>T - - - ABCA4_000547 - Mena et al., 2020 submitted. - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+/. 29i c.4352+1G>A r.spl? p.? Unknown ACMG pathogenic g.94495983C>T - - - ABCA4_000547 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F - Argentina - - - - - 1 Marcela Mena
?/. - c.4352+1G>A r.spl p.? Unknown - VUS g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat19 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
?/. - c.4352+1G>A r.spl p.? Unknown - VUS g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat20 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
?/. - c.4352+1G>A r.spl p.? Unknown - VUS g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat21 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Sodi 2016 - - Unknown - - - - - DNA ? - - retinal disease 21 PubMed: Sodi 2016 c.4253+6C>T was also identified in this patient M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A p.(S1418_P1451delinsR) - ABCA4_000547 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 473 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Smaragda 2018 - - Unknown yes - - - - DNA MLPA, PE, SEQ - APEX retinal disease F-ABCA4-5 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A p.(?) - ABCA4_000547 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66669 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Liu 2020 - - Unknown yes - - - - DNA SEQ-NG - - retinal disease A025 PubMed: Liu 2020 - - ? China - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A/p.? - ABCA4_000547 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 275 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94495983C>T g.94030427C>T – c.4352+1G>A - ABCA4_000547 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 19 PubMed: Tsipi 2016 likely sibling of patients 20 and 21 F ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94495983C>T g.94030427C>T – c.4352+1G>A - ABCA4_000547 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 20 PubMed: Tsipi 2016 likely sibling of patients 19 and 21 M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.94495983C>T g.94030427C>T – c.4352+1G>A - ABCA4_000547 - PubMed: Tsipi 2016 - - Unknown yes - - - - DNA SEQ - - retinal disease 21 PubMed: Tsipi 2016 likely sibling of patients 19 and 20 M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A (p.?) - ABCA4_000547 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3031 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Smaragda 2018 - - Unknown yes - - - - DNA MLPA, PE, SEQ - APEX retinal disease F-ATH44 PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A ? - ABCA4_000547 - PubMed: Smaragda 2018 - - Unknown - - - - - DNA MLPA, PE, SEQ - APEX retinal disease ATH44A PubMed: Smaragda 2018 - M ? Greece - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A p.(?) - ABCA4_000547 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 31 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.94495983C>T g.94030427C>T c.4352+1G>A - ABCA4_000547 - PubMed: Dan 2019 - - Unknown - - - - - DNA SEQ-NG - gene panel retinal disease 160 PubMed: Dan 2019 - F no China Han - - - - 1 Stéphanie Cornelis
+/. 12 c.4352+1G>A r.(?) p.(?) Maternal (confirmed) ACMG pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 490 PubMed: Tracewska 2019 proband M no Poland Slavic - - yes - 1 Anna Tracewska
+/. 12 c.4352+1G>A r.spl p.? Parent #2 ACMG pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tracewska 2019 - - Germline yes 0 (in-house database, ~5000 samples) - - - DNA RFLP buccal cells targeted resequencing using MIPs library prep, 108-gene panel retinal disease 643 PubMed: Tracewska 2019 father of 490 M no Poland Slavic - - yes - 1 Anna Tracewska
+?/. 29i c.4352+1G>A r.spl? p.? Unknown - likely pathogenic g.94495983C>T - c.4352+1G>A - ABCA4_000547 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - M - Switzerland - - - - - 1 LOVD
+?/. 29i c.4352+1G>A r.spl? p.? Unknown - likely pathogenic (recessive) g.94495983C>T - c.4352+1G>A - ABCA4_000547 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+/. - c.4352+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+?/. - c.4352+1G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.94495983C>T g.94030427C>T [4352+1G>A;4508C>T] - ABCA4_000547 - PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ - - retinal disease - PubMed: Tian 2024 - F - China - - - - - 1 Lu Tian
+/. 29i c.4352+1G>A r.spl? p.(?) Parent #2 - pathogenic g.94495983C>T - c.4352+1G>A - ABCA4_000547 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 29i c.4352+1G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat129 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+/. - c.4352+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0465 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4352+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0610 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.4352+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA DHPLC, SEQ - - retinal disease L-0761 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0947 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0018 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.4352+1G>A r.spl p.? Unknown - pathogenic (recessive) g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-126 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+/. 29i c.4352+1G>A r.spl p.? Parent #1 ACMG pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072815 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 29i c.4352+1G>A r.spl p.? Parent #2 ACMG pathogenic g.94495983C>T g.94030427C>T - - ABCA4_000547 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074102 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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