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.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

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Disease     

ID_report     

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Owner     
+?/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Unknown - likely pathogenic g.94497495del g.94031939del 3970delG - ABCA4_000584 - PubMed: Stenirri 2004 - - Germline - - - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Stenirri 2004 c.5714+5G>A, r.[=, 5714+5g>a; 5714_5715ins5714+1_5714+150] was also identified in this patient ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Unknown - VUS g.94497495del g.94031939del c.3970delG - ABCA4_000584 - PubMed: Stenirri 2008 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Stenirri 2008 Mutations were described separately. Therefore, it is possible that additional mutations were found. ? ? Italy ? - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(3970del) p.(Ala1324ArgfsTer65) Parent #1 ACMG pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Parent #1 - pathogenic g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Parent #2 - pathogenic g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Unknown ACMG pathogenic g.94497495del g.94031939del - - ABCA4_000584 - Mena et al., 2020 submitted - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - F no Argentina - - - - - 1 Marcela Mena
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Unknown - pathogenic (recessive) g.94497495del g.94031939del c.3970del (p.Ala1324Argfs*65) - ABCA4_000584 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 25 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Unknown - pathogenic (recessive) g.94497495del g.94031939del c.3970del p.(Ala1324Argfs*65) - ABCA4_000584 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67191 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Parent #2 - pathogenic (recessive) g.94497495del g.94031939del c.3970del p.(Ala1324Argfs*65) - ABCA4_000584 - PubMed: Khan 2019 - - Unknown yes - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67269 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 27 c.3970del r.(?) p.(Ala1324Argfs*65) Paternal (inferred) ACMG pathogenic (recessive) g.94497492del - - - ABCA4_000584 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#19 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #1 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0078 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #1 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0086 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #1 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0158 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #1 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0175 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Unknown - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0495 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Unknown - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0731 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Unknown - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-1049 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #2 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ - - retinal disease L-0172 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #2 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0220 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.3970del r.(?) p.(Ala1324ArgfsTer65) Parent #2 - pathogenic (recessive) g.94497495del g.94031939del - - ABCA4_000584 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0424 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
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