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.

25 entries on 1 page. Showing entries 1 - 25.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G - - ABCA4_000074 - PubMed: Zernant 2014 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Zernant 2014 - - - United States African American - - - - 1 Jana Zernant
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C - ABCA4_000074 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - DNA SEQ-NG, PCR, SEQ - - ? - PubMed: Audo 2010 - ? - France ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G Val849Ala - ABCA4_000074 - PubMed: Fishman 1999 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999 - F ? - ? - - - - 1 Stéphanie Cornelis
-?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - likely benign g.94520708A>G g.94055152A>G Val849Ala - ABCA4_000074 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - - Germline ? ExAC 162, 121382, 1, 0.001335 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - F ? - ? - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G 2546T>C - ABCA4_000074 - PubMed: Webster 2001 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - 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
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G 2546T>C - ABCA4_000074 - PubMed: Webster 2001 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - 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
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G 2546T>C - ABCA4_000074 - PubMed: Webster 2001 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - 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
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G 2546T>C - ABCA4_000074 - PubMed: Webster 2001 - - Germline - ExAC 162, 121382, 1, 0.001335 - - - 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
?/. 16 c.2546T>C r.(2546u>c) p.(Val849Ala) Parent #1 ACMG VUS g.94520708A>G g.94055152A>G - - ABCA4_000074 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.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G ABCA4(NM_000350.3):c.2546T>C (p.V849A) - ABCA4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 16 c.2546T>C r.(?) p.(Val849Ala) Parent #1 - likely pathogenic g.94520708A>G g.94055152A>G - - ABCA4_000074 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
?/. - c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G ABCA4(NM_000350.3):c.2546T>C (p.V849A) - ABCA4_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849Ala - ABCA4_000074 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 11024 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2501-3141 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3516-5214 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ - - retinal disease 3765-4616 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3910-4794 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C (p.V849A) - ABCA4_000074 - PubMed: Utz 2013 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 5 PubMed: Utz 2013 - - ? United States African American - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Parent #1 - VUS g.94520708A>G g.94055152A>G c.[634C>T;2546T>C] p.[Arg212Cys;Val849Ala] - ABCA4_000074 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0807 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2368-3002 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4513-5474 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G g.94055152A>G c.2546T>C, p.Val849la Heterozygous - ABCA4_000074 - PubMed: Goetz 2020 - - Unknown - 162, 121382, 1, 0.001335 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5938-7422 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. - c.2546T>C r.(?) p.(Val849Ala) Unknown - likely pathogenic g.94520708A>G g.94055152A>G c.2546?T>C; p.V849A - ABCA4_000074 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - F - - - - - - - 1 LOVD
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown - VUS g.94520708A>G - c.2546T>C - ABCA4_000074 unknown variant 2nd chromosome PubMed: Khan 2020 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 67112 PubMed: Khan 2019PubMed: Khan 2020 - M - France - - - - - 1 LOVD
?/. 16 c.2546T>C r.(?) p.(Val849Ala) Unknown ACMG VUS g.94520708A>G g.94055152A>G - - ABCA4_000074 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat95 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
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