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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown - likely pathogenic g.94564430A>T g.94098874A>T C230S - ABCA4_000376 - PubMed: Rivera 2000 - - Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 6 c.688T>A r.(?) p.(Cys230Ser) Parent #1 - VUS g.94564430A>T g.94098874A>T E1022 K; C230S - ABCA4_000376 - PubMed: Fumagalli 2001 - - Germline - - - - - DNA PCR, DGGE, SEQ - - STGD1 - PubMed: Fumagalli 2001 - - - Italy - - - - - 1 Stéphanie Cornelis
?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown - VUS g.94564430A>T g.94098874A>T c.688T>A - ABCA4_000376 - 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
+?/. 6 c.688T>A r.(688u>a) p.(Cys230Ser) Parent #1 ACMG likely pathogenic (recessive) g.94564430A>T g.94098874A>T - - ABCA4_000376 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown ACMG likely pathogenic g.94564430A>T - - - ABCA4_000376 - Mena et al., 2020 submitted. - rs1057518767 Germline ? - - - - DNA SEQ-NG-IT - gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown ACMG likely pathogenic g.94564430A>T - - - ABCA4_000376 - Mena et al., 2020 submitted. - - Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F - Argentina - - - - - 1 Marcela Mena
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown ACMG likely pathogenic g.94564430A>T - - - ABCA4_000376 - Mena et al., 2020 submitted - rs1057518767 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - F no Argentina - - - - - 1 Marcela Mena
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Paternal (confirmed) ACMG likely pathogenic g.94564430A>T - - - ABCA4_000376 - Mena et al., 2020 submitted - rs1057518767 Germline yes - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted - M no Argentina - - - - - 1 Marcela Mena
?/. - c.688T>A r.(?) p.(Cys230Ser) Unknown - VUS g.94564430A>T g.94098874A>T - - ABCA4_000376 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case30421 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Unknown - likely pathogenic (recessive) g.94564430A>T g.94098874A>T C230S - ABCA4_000376 - PubMed: Scholl 2001 - - Unknown - - - - - DNA SEQ - - retinal disease 5 PubMed: Scholl 2001 - F no Germany - - - - - 1 Stéphanie Cornelis
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Parent #1 - likely pathogenic (recessive) g.94564430A>T g.94098874A>T c.688T>A (p.Cys230Ser - ABCA4_000376 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 3338 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Paternal (confirmed) ACMG pathogenic (recessive) g.94564430A>T - - - ABCA4_000376 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#23 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Maternal (confirmed) ACMG pathogenic (recessive) g.94564430A>T - - - ABCA4_000376 - Bianco 2023, submitted - - Germline yes - - - - DNA SEQ-NG-I Peripheral Blood Sample - STGD1 601691#45 Bianco 2023, submitted - F no Italy - - - - - 1 Lorenzo Bianco
+?/. 6 c.688T>A r.(?) p.(Cys230Ser) Parent #1 ACMG likely pathogenic (recessive) g.94564430A>T g.94098874A>T - - ABCA4_000376 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline yes - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat267 PubMed: Corradi 2023, Journal: Corradi 2023 - M - - - - - - - 1 Zelia Corradi
+?/. - c.688T>A r.(?) p.(Cys230Ser) Unknown - likely pathogenic (recessive) g.94564430A>T g.94098874A>T - - ABCA4_000376 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0199 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. 6 c.688T>A r.(?) p.(Cys230Ser) Parent #1 ACMG pathogenic g.94564430A>T g.94098874A>T - - ABCA4_000376 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073750 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.688T>A r.(?) p.(Cys230Ser) Unknown - likely pathogenic g.94564430A>T - - - ABCA4_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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