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.

27 entries on 1 page. Showing entries 1 - 27.
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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     
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic g.94476865A>G g.94011309A>G 5537T>C - ABCA4_000430 - PubMed: Maugeri 1999 - - Germline - ExAC 3, 121186, 0, 0.00002476 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic g.94476865A>G g.94011309A>G ATT > ACT - ABCA4_000430 - PubMed: Briggs 2001 - - Germline ? ExAC 3, 121186, 0, 0.00002476 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic g.94476865A>G g.94011309A>G ATT > ACT - ABCA4_000430 - PubMed: Briggs 2001 - - Germline ? ExAC 3, 121186, 0, 0.00002476 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G I1846T - ABCA4_000430 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 121186, 0, 0.00002476 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G I1846T - ABCA4_000430 - PubMed: Jaakson 2003 - - Germline - ExAC 3, 121186, 0, 0.00002476 - - - DNA PCR, PE, SEQ - APEX ? - PubMed: Jaakson 2003 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G c.5537T>C - ABCA4_000430 - PubMed: Ernest 2009 - - Germline - 3, 121186, 0, 0.00002476 - - - DNA PE, DGGE, SEQ - APEX ? - PubMed: Ernest 2009 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G 5537T>C - ABCA4_000430 - PubMed: Downes 2012 - - Germline - 3, 121186, 0, 0.00002476 - - - DNA SEQ, MLPA - - STGD1 - PubMed: Downes 2012 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G c.5537T>C - ABCA4_000430 - PubMed: Lambertus 2015 - - Germline ? 3, 121186, 0, 0.00002476 - - - DNA PE, MLPA, SEQ - APEX STGD1 - PubMed: Lambertus 2015 - ? ? Netherlands ? - - - - 1 Stéphanie Cornelis
?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - VUS g.94476865A>G g.94011309A>G c.5537T>C - ABCA4_000430 - PubMed: van Huet 2014 - - Germline ? 3, 121186, 0, 0.00002476 - - - DNA PE, SEQ - APEX STGD1 - PubMed: van Huet 2014 - M ? Netherlands ? - - - - 1 Stéphanie Cornelis
+/. 39 c.5537T>C r.(5537u>c) p.(Ile1846Thr) Parent #1 ACMG pathogenic (recessive) g.94476865A>G g.94011309A>G - - ABCA4_000430 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P28 PubMed: Valkenburg 2019 Sibling of P29, P30 and P31 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P29 PubMed: Valkenburg 2019 Sibling of P28, P30 and P31 M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P30 PubMed: Valkenburg 2019 Sibling of P28, P29 and P31 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Valkenburg 2019 - - Unknown - - - - - DNA ? - - retinal disease P31 PubMed: Valkenburg 2019 Sibling of P28, P29 and P30 F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G I1846T - ABCA4_000430 - PubMed: Burke 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 10 PubMed: Burke 2011 - F ? United States - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Parent #2 - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 34 PubMed: Lambertus 2016 - - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Lambertus 2016 - - Unknown - - - - - DNA ? - - retinal disease 34 PubMed: Lambertus 2016 50% of patients were M and 50% F - ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Lambertus 2017PubMed: Bax 2019 - - Unknown - - - - - DNA ? - - retinal disease Radboudumc 3; 18 PubMed: Lambertus 2017PubMed: Bax 2019 - F ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Parent #2 - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C (p.Ile1846Thr) - ABCA4_000430 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3255 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.2915 C>Ac.5537 T>C - ABCA4_000430 - PubMed: Schroeder 2018 - - Unknown - - - - - DNA PE - APEX retinal disease 7 PubMed: Schroeder 2018 - F ? Sweden - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.(Ile1846Thr) - ABCA4_000430 - PubMed: Bax 2019 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease 20 PubMed: Bax 2019 - M ? Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C/p.I1846T - ABCA4_000430 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 256 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.Ile1846Thr het - ABCA4_000430 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-177-002 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
+?/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic (recessive) g.94476865A>G g.94011309A>G c.5537T>C p.Ile1846Thr het - ABCA4_000430 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-217-024 Prevention Genetics - - ? - white;Europe-N - - - - 1 Stéphanie Cornelis
+/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Parent #1 ACMG pathogenic (recessive) g.94476865A>G g.94011309A>G - - ABCA4_000430 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat307 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+/. 39 c.5537T>C r.(?) p.(Ile1846Thr) Unknown ACMG pathogenic (recessive) g.94476865A>G g.94011309A>G - - ABCA4_000430 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat2 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
+?/. - c.5537T>C r.(?) p.(Ile1846Thr) Unknown - likely pathogenic g.94476865A>G - - - ABCA4_000430 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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