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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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Methylation     

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Disease     

ID_report     

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Owner     
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G - ABCA4_000853 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.77). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Riveiro-Alvarez 2013 - - Germline - 20, 121058, 0, 0.0001652 - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 48 c.6721C>G r.(6721c>g) p.(Leu2241Val) Parent #1 ACMG likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C - - ABCA4_000853 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C L2241V - ABCA4_000853 no variant 2nd chromosome PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 1 PubMed: Scholl 2001 - M no Germany - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C Leu2241Val - ABCA4_000853 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 181 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G,p.Leu2241Val - ABCA4_000853 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15110 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G/p.L2241V - ABCA4_000853 - PubMed: Weisschuh 2020 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 220 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G, p.Leu2241Val Heterozygous - ABCA4_000853 - PubMed: Goetz 2020 - - Unknown - 20, 121058, 0, 0.0001652 - - - DNA SEQ - - retinal disease 305-1687 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G, p.Leu2241Val heterozygous - ABCA4_000853 - PubMed: Goetz 2020 - - Unknown - 20, 121058, 0, 0.0001652 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 69-731 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G,p.Leu2241Val - ABCA4_000853 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15042 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G, p.Leu2241Val Heterozygous - ABCA4_000853 - PubMed: Goetz 2020 - - Unknown - 20, 121058, 0, 0.0001652 - - - DNA SEQ - - retinal disease 2452-3119 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G, p.Leu2241Val Heterozygous - ABCA4_000853 - PubMed: Goetz 2020 - - Unknown - 20, 121058, 0, 0.0001652 - - - DNA SEQ-NG-I - solid state SBS retinal disease 2549-3192 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C g.93997869G>C c.6721C>G, p.Leu2241Val Heterozygous - ABCA4_000853 - PubMed: Goetz 2020 - - Unknown - 20, 121058, 0, 0.0001652 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4314-6121 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown - VUS g.94463425G>C - c.6721C>G(;)5603A>T - ABCA4_000853 - PubMed: Khan 2020 - - Unknown - - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70863 PubMed: Khan 2020 - F - Poland - - - - - 1 LOVD
+?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown ACMG likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat66 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. 48 c.6721C>G r.(?) p.(Leu2241Val) Unknown ACMG likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat118 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.6721C>G r.(?) p.(Leu2241Val) Unknown - likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0276 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.6721C>G r.(?) p.(Leu2241Val) Unknown - likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0974 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+?/. - c.6721C>G r.(?) p.(Leu2241Val) Unknown - likely pathogenic (recessive) g.94463425G>C g.93997869G>C - - ABCA4_000853 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-251 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
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