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.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
-/. - c.4203C>A r.(?) p.(Pro1401=) Unknown - benign g.94496602G>T g.94031046G>T ABCA4(NM_000350.2):c.4203C>A (p.P1401=) - ABCA4_000913 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4203C>A r.(?) p.(Pro1401=) Unknown - benign g.94496602G>T g.94031046G>T ABCA4(NM_000350.2):c.4203C>A (p.P1401=) - ABCA4_000913 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A p.(P1401P) - ABCA4_000913 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 465 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1493-2064 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 3079-3801 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3681-5373 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 4372-6181 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 4488-5430 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4770-5819 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5170-7147 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5732-6956 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5858-7348 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 586-1132 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1169-2639 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 121-834 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1253-1822 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 1266-1803 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 1299-1838 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 1316-1884 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1327-1866 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 133-824 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 141-840 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1421-1961 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1460-2034 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1630-2192 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1653-2245 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 1779-2356 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 2630-3286 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 303-1685 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 334-1715 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 344-1724 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 3544-5210 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 358-1743 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 364-1750 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 385-1799 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 4105-4995 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4314-6121 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4493-5441 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4646-5649 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4787-5807 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 4788-5808 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4799-5848 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 4812-5831 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5007-6986 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Both (homozygous) - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Homozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5165-7140 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Both (homozygous) - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Homozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5165-7140 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5252-6345 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5351-6462 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 5362-6504 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.(Pro1401=) Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 5395-6512 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5513-6688 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5538-6681 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5676-6853 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ-NG-I - solid state SBS retinal disease 5685-6894 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 - PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 809-1326 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(?) p.(=) Unknown - likely benign g.94496602G>T g.94031046G>T c.4203C>A, p.Pro1401Pro Heterozygous - ABCA4_000913 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 2957, 120728, 46, 0.02449 - - - DNA SEQ - - retinal disease 885-1437 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
-?/. 28 c.4203C>A r.(=) p.(=) Unknown - likely benign g.94496602G>T - P1401P - ABCA4_000913 - PubMed: Margalit 2003 - - Unknown ? - - - - DNA PE - - retinal disease ? PubMed: Margalit 2003 The patient also has retinoblastoma in both eyes. Furthermore, the variants IVS33+48C>T, H423R and L1894L were also found. M ? United States white - - - - 1 LOVD
-/. - c.4203C>A r.(?) p.(=) Unknown - benign g.94496602G>T - 4203A,5603T,5682C - ABCA4_000913 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-/. - c.4203C>A r.(=) p.(=) Parent #1 - benign g.94496602G>T - 4203A,5603T,5682C - ABCA4_000913 - PubMed: Klevering 2004 - - Germline - - - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
-?/. - c.4203C>A r.4203c>a p.Pro1401= Unknown - NA g.94496602G>T g.94031046G>T - - ABCA4_000913 functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect benign PubMed: Kaltak 2023 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 28 c.4203C>A r.(?) p.(Pro1401=) Unknown ACMG benign g.94496602G>T g.94031046G>T - - ABCA4_000913 ACMG BS1, BP4_m, BP7 Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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