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.

16 entries on 1 page. Showing entries 1 - 16.
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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     

Data_av     

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Owner     
?/. 39i c.5584+6T>C r.spl? p.(?) Parent #2 - VUS g.94476812A>G g.94011256A>G - - ABCA4_000048 - PubMed: Bax 2014 - - Germline ? - - - - DNA SEQ-NG-I - - STGD - PubMed: Bax 2015 2-generation family, 2 affected (F, M), unaffected parents, patient CII1 M no Netherlands - - - - - 2 Nathalie Bax
+?/. 39i c.5584+6T>C r.spl? p.(?) Unknown - likely pathogenic g.94476812A>G g.94011256A>G c.5584+6T>C - ABCA4_000048 - PubMed: Bax 2015 - - Germline - - - - - DNA MLPA - - STGD1 - PubMed: Bax 2015 patient CII2 F ? Netherlands ? - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.spl? p.(?) Unknown - likely pathogenic g.94476812A>G g.94011256A>G c.5584+6T>C - ABCA4_000048 - PubMed: Rosenberg 2007 - - Germline ? - - - - DNA PCR, SSCA, PE, SEQ - APEX ? - PubMed: Rosenberg 2007 - ? no - ? - - - - 1 Stéphanie Cornelis
?/. 39i c.5584+6T>C r.spl? p.(?) Unknown - VUS g.94476812A>G g.94011256A>G c.5584+6T>C - ABCA4_000048 - PubMed: Rosenberg 2007 - - Germline - - - - - 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
+?/. 39i c.5584+6T>C r.spl? p.(?) Unknown - likely pathogenic g.94476812A>G g.94011256A>G IVS39+6T>C - ABCA4_000048 - PubMed: Cideciyan 2009 - - Germline yes - - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821AspfsTer6,Thr1821ValfsTer13,Glu1863LeufsTer33] Parent #1 ACMG pathogenic (recessive) g.94476812A>G g.94011256A>G - - ABCA4_000048 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/? 39i c.5584+6T>C r.spl? p.(?) Unknown - likely pathogenic g.94476812A>G g.94011256A>G - - ABCA4_000048 - - - rs61750633 Germline - - - - - DNA SEQ-NG - - STGD - Haer-Wigman 2016 - ? no - - - - - - 1 Lonneke Haer-Wigman
?/. - c.5584+6T>C r.(=) p.(=) Unknown - VUS g.94476812A>G g.94011256A>G - - ABCA4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del] p.[(Thr1821Aspfs∗6,Thr1821Valfs∗13,Glu1863Leufs∗33)] Unknown - NA g.94476812A>G g.94011256A>G - - ABCA4_000048 expression cloning midigene splicing construct: no correctly spliced RNA PubMed: Sangermano 2018 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5584+6T>C r.spl? p.? Unknown - pathogenic g.94476812A>G g.94011256A>G - - ABCA4_000048 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 4182 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C r.(spl?) - ABCA4_000048 - PubMed: Haer-Wigman 2017 - - Unknown - - - - - DNA SEQ-NG-I - WES retinal disease 4182 PubMed: Haer-Wigman 2017 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C, Heterozygous - ABCA4_000048 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 1405-1973 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C, splice sitealteration ? - ABCA4_000048 - PubMed: Fujinami 2019 - - Unknown yes - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15036 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C p.(?) - ABCA4_000048 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 14 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C/p.? - ABCA4_000048 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 249 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39i c.5584+6T>C r.[5461_5714del,5461_5584del,5585_5714] p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33] Unknown - likely pathogenic (recessive) g.94476812A>G g.94011256A>G c.5584+6T>C/p.? - ABCA4_000048 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 367 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
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