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.

37 entries on 1 page. Showing entries 1 - 37.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Methylation     

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Technique     

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Remarks     

Disease     

ID_report     

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Gender     

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Age at death     

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+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #2 - likely pathogenic g.94463617C>T g.93998061C>T - - ABCA4_000013 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Alapati 2014 - - Germline - ExAC 1235, 121366, 14, 0.01018 - - - DNA PE, PCR, SEQ - APEX CORD - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T 6529G>A - ABCA4_000013 - PubMed: Klevering 2004 - - Germline - ExAC 1235, 121366, 14, 0.01018 - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T 6529G>A - ABCA4_000013 - PubMed: Klevering 2004 - - Germline - ExAC 1235, 121366, 14, 0.01018 - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T c.6529G>A - ABCA4_000013 - PubMed: Rosenberg 2007 - - Germline - 1235, 121366, 14, 0.01018 - - - 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
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T c.6529G>A - ABCA4_000013 - PubMed: Rosenberg 2007 - - Germline - 1235, 121366, 14, 0.01018 - - - 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
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T c.6529G>A - ABCA4_000013 - PubMed: Ernest 2009 - - Germline - 1235, 121366, 14, 0.01018 - - - 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
?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - VUS g.94463617C>T g.93998061C>T c.6529G>A - ABCA4_000013 - PubMed: Bauwens 2014 - - Germline - 1235, 121366, 14, 0.01018 - - - DNA SEQ-NG-I, PCR, SEQ - - CORD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 48 c.6529G>A r.(6529g>a) p.(Asp2177Asn) Parent #1 ACMG likely benign g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6529G>A r.(?) p.(Asp2177Asn) Maternal (confirmed) - likely benign g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Nassisi 2018 ClinVar-7885 - Germline ? - - - - DNA SEQ - - STGD1 30060493-Fam4407PatCIC07887 PubMed: Nassisi 2018 - F no France - >20y - - - 1 Marco Nassisi
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T - - ABCA4_000013 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T - - ABCA4_000013 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T - - ABCA4_000013 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - VUS g.94463617C>T g.93998061C>T - - ABCA4_000013 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A p.(D2177N) - ABCA4_000013 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 562 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A p.(Asp2177Asn) - ABCA4_000013 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66731 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A p.(Asp2177Asn) - ABCA4_000013 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67218 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A p.(Asp2177Asn) - ABCA4_000013 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67243 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A# p.(Asp2177Asn) - ABCA4_000013 no variant 2nd chromosome; no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67320 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T g.93998061C>T c.6529G>A,p.Asp2177Asn - ABCA4_000013 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 14012 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T c.6529G>A p.(Asp2177Asn) - ABCA4_000013 - PubMed: Nassisi 2018 - - Unknown yes - - - - DNA PE, SEQ - APEX retinal disease CIC07887 PubMed: Nassisi 2018 - - ? France - - - - - 1 Stéphanie Cornelis
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Parent #1 - benign g.94463617C>T g.93998061C>T c.[686T>C;6529G>A] p.[(Leu229Pro;Asp2177Asn)] - ABCA4_000013 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67229 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic g.94463617C>T - c.6529G>A - ABCA4_000013 - PubMed: Eisenberger-2013 - rs1800555 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? United States white - - - - 8 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? United States white - - - - 3 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Germany - - - - - 2 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Germany - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Netherlands - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Spain - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Sweden - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? Sweden - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely pathogenic (recessive) g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Allikmets 2000 - - Unknown ? - - - - DNA ? - - retinal disease ? PubMed: Allikmets 2000 unknown 2nd chromosome ? ? France - - - - - 2 LOVD
-/. 48 c.6529G>A r.(?) p.(Asp2177Asn) Unknown - benign g.94463617C>T - D2177N - ABCA4_000013 - PubMed: Bernstein 2002 - - Unknown ? - - - - DNA SEQ - - retinal disease ? PubMed: Bernstein 2002 unknown 2nd chromosome ? ? United States - - - - - 7 LOVD
-?/. - c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely benign g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0609 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
-?/. - c.6529G>A r.(?) p.(Asp2177Asn) Unknown - likely benign g.94463617C>T g.93998061C>T - - ABCA4_000013 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-151 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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