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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T g.94030454G>T c.4326C>A - ABCA4_000549 - PubMed: Zernant 2011 - - Germline ? 3, 121366, 0, 0.00002472 - - - DNA PE, SEQ-NG, SEQ - APEX ? - PubMed: Zernant 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - pathogenic g.94496010G>T g.94030454G>T 4326C>A - ABCA4_000549 - PubMed: Downes 2012 - - Germline ? 3, 121366, 0, 0.00002472 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T g.94030454G>T 4326C>A - ABCA4_000549 - PubMed: Downes 2012 - - Germline ? 3, 121366, 0, 0.00002472 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T g.94030454G>T c.4326C>A - ABCA4_000549 - PubMed: Fujinami 2013 - - Germline ? 3, 121366, 0, 0.00002472 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 29 c.4326C>A r.(4326c>a) p.(Asn1442Lys) Parent #1 ACMG likely pathogenic (recessive) g.94496010G>T g.94030454G>T - - ABCA4_000549 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.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T - - - ABCA4_000549 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T g.94030454G>T - - ABCA4_000549 no variant 2nd chromosome PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 810 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Parent #2 - likely pathogenic g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 704 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Parent #2 - likely pathogenic g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 722 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Parent #1 - likely pathogenic g.94496010G>T g.94030454G>T - - ABCA4_000549 variant other allele not reported PubMed: Ramkumar 2017 - - Germline - - - - - DNA SEQ - 17-gene panel retinal disease - PubMed: Ramkumar 2017 - - - United States - - - - - 1 LOVD
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13014675 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A p.Asn1442Lys Het - ABCA4_000549 no variant 2nd chromosome PubMed: Ramkumar 2017 - - Unknown - - - - - DNA SEQ - - retinal disease Unknown 363 PubMed: Ramkumar 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Parent #1 - VUS g.94496010G>T g.94030454G>T c.4326C>A Asn1442Lys AAC>AAA - ABCA4_000549 no variant 2nd chromosome PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 810 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T ABCA4 c.4326C>A p.(Asn1442Lys) het - ABCA4_000549 - PubMed: Ellingford 2016 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 13014675 PubMed: Ellingford 2016 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A p.(Asn1442Lys) - ABCA4_000549 no variant 2nd chromosome PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 338 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A, p.Asn1442Lys Heterozygous - ABCA4_000549 - PubMed: Goetz 2020 - - Unknown - 3, 121366, 0, 0.00002472 - - - DNA SEQ - - retinal disease 3656-5340 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A, p.Asn1442Lys Heterozygous - ABCA4_000549 - PubMed: Goetz 2020 - - Unknown - 3, 121366, 0, 0.00002472 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5351-6462 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A (p.Asn1442Lys) - ABCA4_000549 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3155 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Parent #2 - VUS g.94496010G>T g.94030454G>T c.4326C>A Asn1442Lys AAC>AAA - ABCA4_000549 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 704 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Parent #2 - VUS g.94496010G>T g.94030454G>T c.4326C>A Asn1442Lys AAC>AAA - ABCA4_000549 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 722 PubMed: Stone 2017 - F ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C.A p.Asn1442Lys - ABCA4_000549 - PubMed: Tanna 2019 - - Unknown - - - - - DNA ? - - retinal disease P34 PubMed: Tanna 2019 - M ? - - - - - - 1 Stéphanie Cornelis
?/. 29 c.4326C>A r.(?) p.(Asn1442Lys) Unknown - VUS g.94496010G>T g.94030454G>T c.4326C>A, p.Asn1442Lys Heterozygous - ABCA4_000549 - PubMed: Goetz 2020 - - Unknown - 3, 121366, 0, 0.00002472 - - - DNA SEQ - - retinal disease 3656-5340 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic (recessive) g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-mild-72 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic (recessive) g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-298 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic (recessive) g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-282 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
+?/. - c.4326C>A r.(?) p.(Asn1442Lys) Unknown - likely pathogenic (recessive) g.94496010G>T g.94030454G>T - - ABCA4_000549 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-378 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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