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.

15 entries on 1 page. Showing entries 1 - 15.
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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     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 7i c.859-506G>C r.[(858_859ins859-503_859-448,=)] p.[(Phe287Thrfs*32,=)] Parent #2 - pathogenic (recessive) g.94546780C>G - - - ABCA4_001271 - PubMed: Sangermano 2019 - - Germline - - - - - DNA SSCA, SEQ - - CORD ?;FamBPatI2 PubMed: Klevering 2002, PubMed: Sangermano 2019 - F ? (Germany);(Netherlands) ? - - - - 1 Stéphanie Cornelis
+/. 7i c.859-506G>C r.[(858_859ins859-503_859-448,=)] p.[(Phe287Thrfs*32,=)] Parent #2 - pathogenic (recessive) g.94546780C>G g.94081224C>G - - ABCA4_001271 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamOPatI1 PubMed: Sangermano 2019 - M - - - - - - - 1 Stéphanie Cornelis
+/. 7i c.859-506G>C r.[(858_859ins859-503_859-448,=)] p.[(Phe287Thrfs*32,=)] Parent #2 - pathogenic (recessive) g.94546780C>G g.94081224C>G - - ABCA4_001271 analysis mini-gene splicing assay PubMed: Sangermano 2019 - - Germline - - - - - DNA PCRh, SEQ-NG - - STGD1 FamPPatII3 PubMed: Sangermano 2019 - F - - - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Parent #2 - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C p.[Phe287Thrfs*32,=]b - ABCA4_001271 - PubMed: Sangermano 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease B-I:2 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Parent #2 - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C p.[Phe287Thrfs*32,=]b - ABCA4_001271 - PubMed: Sangermano 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease O-I:1 PubMed: Sangermano 2019 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Parent #2 - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C p.[Phe287Thrfs*32,=]b - ABCA4_001271 - PubMed: Sangermano 2019 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease P-II:3 PubMed: Sangermano 2019 - F ? - - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C - ABCA4_001271 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P36 PubMed: Valkenburg 2019 Sibling of P37 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C - ABCA4_001271 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P37 PubMed: Valkenburg 2019 Sibling of P36 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C p.[F287Tfs*32,=] - ABCA4_001271 - PubMed: Khan 2020 - - Unknown yes - - - - DNA PCRh, SEQ - Haloplex retinal disease 22a PubMed: Khan 2020 sibling of 22b F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G g.94081224C>G c.859-506G>C p.[F287Tfs*32,=] - ABCA4_001271 - PubMed: Khan 2020 - - Unknown yes - - - - DNA PCRh, SEQ - Haloplex retinal disease 22b PubMed: Khan 2020 sibling of 22a M ? Netherlands - - - - - 1 Stéphanie Cornelis
+/. - c.859-506G>C r.(=) p.(=) Unknown - pathogenic g.94546780C>G - - - ABCA4_001271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G - c.859-506G>C - ABCA4_001271 - Sangermano 2019 - - Unknown yes - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease 70702; MD-0065 PubMed: Khan 2020PubMed: Del Pozo-Valero 2020 - M - Spain - - - - - 1 LOVD
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G - c.859-506G>C - ABCA4_001271 - Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA10-08407 PubMed: Khan 2020 - M - Netherlands - - - - - 1 LOVD
+?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287Thrfs*32,=] Unknown - likely pathogenic (recessive) g.94546780C>G - c.859-506G>C - ABCA4_001271 - Sangermano 2019 - - Unknown ? - - - - DNA MIPsm - smMIPs-based complete ABCA4 gene retinal disease DNA17-18054 PubMed: Khan 2020 - F - Netherlands - - - - - 1 LOVD
?/. 7i c.859-506G>C r.[858_859ins859-503_859-447,=] p.[Phe287ThrfsTer32,=] Unknown ACMG VUS g.94546780C>G g.94081224C>G - - ABCA4_001271 ACMG PS3_sup, PS4, PM3, BP4_m; severity category moderate Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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