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.

42 entries on 1 page. Showing entries 1 - 42.
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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     
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G>T - ABCA4_000164 - PubMed: Maugeri 1999 - - Germline ? - - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Both (homozygous) - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998 - - Germline yes - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Cremers 1998 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Both (homozygous) - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998 - - Germline yes - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Cremers 1998 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Both (homozygous) - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998 - - Germline yes - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Cremers 1998 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998, PubMed: Klevering 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - CORD - PubMed: Cremers 1998, PubMed: Klevering 1999 5-generation family, 9 affected F yes - ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Both (homozygous) - pathogenic g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998 - - Germline yes - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Cremers 1998 5-generation family, 9 affected M yes - ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+1G>T r.spl p.? Unknown - VUS g.94495000C>A g.94029444C>A IVS30+1G→T - ABCA4_000164 - PubMed: Cremers 1998 - - Germline - - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Cremers 1998 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+1G>T r.spl p.? Unknown - VUS g.94495000C>A g.94029444C>A 4539 + 1g>t - ABCA4_000164 - PubMed: Webster 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A IVS30 +1G>T - ABCA4_000164 - PubMed: Klevering 2002 - - Germline - - - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2002 - M ? (Netherlands);(Germany) ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+1G>T r.spl p.? Unknown - VUS g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Ernest 2009 - - Germline - - - - - 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
?/. 30i c.4539+1G>T r.spl p.? Unknown - VUS g.94495000C>A g.94029444C>A IVS30+1 G>T - ABCA4_000164 found no variant 2nd chromosome PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
+?/. 30i c.4539+1G>T r.spl p.? Unknown - likely pathogenic g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Nõupuu 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - STGD1 - PubMed: Nõupuu 2014 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 30i c.4539+1G>T r.spl p.? Unknown - VUS g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Lambertus 2015 - - Germline - - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Lambertus 2015 - - Germline ? - - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Parent #1 ACMG pathogenic (recessive) g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+1G>T r.spl? p.? Unknown - pathogenic g.94495000C>A g.94029444C>A ABCA4(NM_000350.3):c.4539+1G>T - ABCA4_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4539+1G>T r.spl? p.? Unknown - pathogenic g.94495000C>A g.94029444C>A ABCA4(NM_000350.3):c.4539+1G>T - ABCA4_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 31i c.4539+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamQPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 31i c.4539+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamRPatII1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T splice defect - ABCA4_000164 - PubMed: Thiadens 2012 - - Unknown - - - - - DNA DGGE, PE, SEQ - APEX retinal disease Unknown 297 PubMed: Thiadens 2012 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T p.(?) - ABCA4_000164 no variant 2nd chromosome PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 13 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T (p.?) - ABCA4_000164 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3309 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T (p.?) - ABCA4_000164 - PubMed: Zernant 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 14 PubMed: Zernant 2018 - - ? - Non-Finnish European - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T p.(?) - ABCA4_000164 - PubMed: Sangermano 2019 PubMed: Runhart 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease Q-II:1 PubMed: Sangermano 2019 PubMed: Runhart 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T p.(?) - ABCA4_000164 - PubMed: Sangermano 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease R-II:1 PubMed: Sangermano 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T p.(?) - ABCA4_000164 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 4 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T p.(?) - ABCA4_000164 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 12 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539 +1G>T - ABCA4_000164 - PubMed: Teussink 2015 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 4 PubMed: Teussink 2015 - M ? Netherlands white - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A Het NM_000350.2: c.4539+1G>T - ABCA4_000164 - PubMed: Abed 2018 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 16 PubMed: Abed 2018 - M ? Italy - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P6 PubMed: Valkenburg 2019 Sibling of P7, P8 and P9 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P7 PubMed: Valkenburg 2019 Sibling of P6, P8 and P9 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P8 PubMed: Valkenburg 2019 Sibling of P6, P7 and P9 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl p.? Unknown - pathogenic (recessive) g.94495000C>A g.94029444C>A c.4539+1G>T - ABCA4_000164 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P9 PubMed: Valkenburg 2019 Sibling of P6, P7 and P8 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. 30i c.4539+1G>T r.spl? p.? Unknown - pathogenic g.94495000C>A - c.4539+1G>T - ABCA4_000164 - PubMed: Thiadens_2012 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Thiadens_2012 - - no - - - - - - 1 LOVD
+/. 30i c.4539+1G>T r.spl p.? Parent #2 ACMG pathogenic (recessive) g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat313 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. - c.4539+1G>T r.spl p.? Parent #1 - pathogenic (recessive) g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0264 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. 30i c.4539+1G>T r.spl p.? Parent #2 ACMG pathogenic g.94495000C>A g.94029444C>A - - ABCA4_000164 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy DNA11-06553 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
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