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.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

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ClinVar ID     

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ID_report     

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?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C 1268A>G - ABCA4_000322 - PubMed: Webster 2001 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - 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
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C H423R - ABCA4_000322 - PubMed: Jaakson 2003 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C H423R - ABCA4_000322 - PubMed: Jaakson 2003 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C H423R - ABCA4_000322 - PubMed: Jaakson 2003 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C H423R - ABCA4_000322 - PubMed: Jaakson 2003 - - Germline - ExAC 30988, 121400, 4255, 0.2553 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
-?/. 10 c.1268A>G r.(1268a>g) p.(His423Arg) Parent #1 ACMG likely benign g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C ABCA4(NM_000350.2):c.1268A>G (p.H423R) - ABCA4_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C ABCA4(NM_000350.2):c.1268A>G (p.H423R) - ABCA4_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3112831 Germline - 453/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 453 Yoshito Koyanagi
-/. - c.1268A>G r.(?) p.(His423Arg) Both (homozygous) - benign g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs3112831 Germline - 80/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 80 Yoshito Koyanagi
+/. 9 c.1268A>G r.(?) p.(His423Arg) Unknown - pathogenic (recessive) g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat73 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.1268A>G r.(?) p.(His423Arg) Both (homozygous) - pathogenic g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Zolnikova 2017 - rs3112831 Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P028 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat2 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat3 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat4 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat10 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat12 PubMed: Tsipi 2016 see paper M - Greece - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C - - ABCA4_000322 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat22 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.(H423R) - ABCA4_000322 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 400 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P011 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P012 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P018 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P024 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 9 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C p.His423Arg - ABCA4_000322 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 73 PubMed: Birtel 2018 - M no Germany - - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P016 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C het c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Gliem 2020 likely a sibling of patient 3 F ? Germany - - - - - 1 Stéphanie Cornelis
-/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - benign g.94544234T>C g.94078678T>C het c.1268A>G p.His423Arg - ABCA4_000322 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Gliem 2020 likely a sibling of patient 2 F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C - c.1268A>G - ABCA4_000322 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 Patients with unsolved genotype and unlikely disease causing mutations, but reported as polymorphism - - - - - - - - 1 LOVD
+/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS (!) g.94544234T>C - c.1268A>G - ABCA4_000322 Possible protective role PubMed: D'Angelo 2017 - rs3112831 Germline - - - - - DNA SEQ blood - Healthy/Control - PubMed: D'Angelo 2017 Wife of P1 F - Italy - - - - - 1 LOVD
+/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - VUS (!) g.94544234T>C - c.1268A>G - ABCA4_000322 Possible protective role PubMed: D'Angelo 2017 - rs3112831 Germline - - - - - DNA SEQ blood - Healthy/Control - PubMed: D'Angelo 2017 Daugther of P1 and P2 F - Italy - - - - - 1 LOVD
+?/. 10 c.1268A>G r.(?) p.(His423Arg) Unknown - likely pathogenic g.94544234T>C - c.1268A>G - ABCA4_000322 - PubMed: Booij-2011 - rs3112831 Germline - - - - - DNA arraySEQ Blood - retinal disease - PubMed: Booij-2011 - - - - - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown - VUS g.94544234T>C g.94078678T>C ABCA4 1268A>G, His423Arg - ABCA4_000322 exonic polymorphism, Fisher's exact test (two-sided): independent ARM patients versus control: 0.62; Exact Armitage trend test (two-sided): independent ARM patients versus control, robust to violated HWE: 0. PubMed: Schmidt_2003 - - Unknown ? independent ARM (n=140): 0.394; all ARM (n=330): 0.371; control subjects (n=118): 0.427 - - - DNA DHPLC - - ARMD ? PubMed: Schmidt_2003 case-control population study M;F - - - - - - - 1 LOVD
?/. - c.1268A>G r.(?) p.(His423Arg) Unknown ACMG benign (recessive) g.94544234T>C - - - ABCA4_000322 - PubMed: Bianco 2023 - - Unknown - - - - - DNA SEQ-NG-I Peripheral Blood Sample - CORD II.1 PubMed: Bianco 2023 - F no Italy Italian - - - - 1 Lorenzo Bianco
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