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.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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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VIP     

Methylation     

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Technique     

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Disease     

ID_report     

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Owner     
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T - ABCA4_000505 - PubMed: Fujinami 2013 - - Germline - 15, 121334, 0, 0.0001236 - - - DNA PE, PCR, SEQ, SEQ-NG-R - APEX ? - PubMed: Fujinami 2013 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(4715c>u) p.(Thr1572Met) Parent #1 ACMG VUS g.94487460G>A g.94021904G>A - - ABCA4_000505 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.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A - - ABCA4_000505 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs185093512 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.(Thr1572Met) - ABCA4_000505 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1325 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.(Thr1572Met) - ABCA4_000505 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1328 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.(Thr1572Met) - ABCA4_000505 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1331 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.(Thr1572Met) - ABCA4_000505 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1334 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.(Thr1572Met) - ABCA4_000505 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1337 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T p.Thr1572Met Het - ABCA4_000505 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - CRD panel retinal disease 2017-090-228 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A c.4715C>T, p.Thr1572Met Heterozygous - ABCA4_000505 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 15, 121334, 0, 0.0001236 - - - DNA SEQ - - retinal disease 5755-7226 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
?/. - c.4715C>T r.(?) p.(Thr1572Met) Unknown - VUS g.94487460G>A g.94021904G>A - - ABCA4_000505 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease MEH-nonmild-238 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - United Kingdom (Great Britain) - - - - - 1 Stéphanie Cornelis
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown ACMG VUS g.94487460G>A g.94021904G>A c.4715C>T - ABCA4_000505 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs185093512 Germline no - - - - DNA MLPA, SEQ, SEQ-NG blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencingmultiplex ligation-dependent probe amplification analysis,WGS LCA6 JU0954 PubMed: Hosono 2018, Torii 2023, submitted proband, family JIKEI-122 F no Japan Japanese - - - - 2 Kaoruko Torii
?/. 33 c.4715C>T r.(?) p.(Thr1572Met) Unknown ACMG VUS g.94487460G>A g.94021904G>A c.4715C>T - ABCA4_000505 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs185093512 Germline no - - - - DNA MLPA, SEQ, SEQ-NG blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis, WGS LCA6 JU0955 PubMed: Hosono 2018, Torii 2023, submitted relative of JU0954, family JIKEI-122 M no Japan Japanese - - - - 1 Kaoruko Torii
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