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.

26 entries on 1 page. Showing entries 1 - 26.
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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     

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Age at death     

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Owner     
-/. 6 c.635G>A r.(?) p.(Arg212His) Parent #1 - benign g.94564483C>T g.94098927C>T - - ABCA4_000009 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T - - ABCA4_000009 - PubMed: Booij 2011 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA arraySEQ, PCR, SEQ - - STGD1 - PubMed: Booij 2011 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G > A - ABCA4_000009 - PubMed: Webster 2001 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T R212H - ABCA4_000009 - PubMed: Jaakson 2003 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - 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
?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T 635G>A - ABCA4_000009 - PubMed: Klevering 2004 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2004 4-generation family, 2 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - likely pathogenic g.94564483C>T g.94098927C>T 635G>A - ABCA4_000009 - PubMed: Klevering 2004 - - Germline ? ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - CORD - PubMed: Klevering 2004 4-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - likely pathogenic g.94564483C>T g.94098927C>T 635G>A - ABCA4_000009 - PubMed: Klevering 2004 - - Germline - ExAC 4891, 120214, 119, 0.04069 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Klevering 2004 4-generation family, 2 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 6 c.635G>A r.(?) p.(Arg212His) Maternal (confirmed) - likely pathogenic g.94564483C>T g.94098927C>T [c.635G>A] - ABCA4_000009 - PubMed: Özgül 2004 - - Germline yes ExAC 4891, 120214, 119, 0.04069 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Özgül 2004 - ? ? Turkey ? - - - - 1 Stéphanie Cornelis
-?/. 6 c.635G>A r.(635g>a) p.(Arg212His) Parent #1 ACMG likely benign g.94564483C>T g.94098927C>T - - ABCA4_000009 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T ABCA4(NM_000350.3):c.635G>A (p.R212H) - ABCA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T ABCA4(NM_000350.3):c.635G>A (p.R212H) - ABCA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T - - ABCA4_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs6657239 Germline - 136/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 136 Yoshito Koyanagi
-/. - c.635G>A r.(?) p.(Arg212His) Both (homozygous) - benign g.94564483C>T g.94098927C>T - - ABCA4_000009 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs6657239 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
-?/. - c.635G>A r.(?) p.(Arg212His) Both (homozygous) - likely benign g.94564483C>T g.94098927C>T - - ABCA4_000009 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6657239 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T c.635G>A p.(R212H) - ABCA4_000009 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 390 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T c.635G>A p.Arg212His - ABCA4_000009 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P013 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T c.635G>A p.Arg212His - ABCA4_000009 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P015 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T c.635G>A p.Arg212His - ABCA4_000009 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P016 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T het c.635G>A p.Arg212His - ABCA4_000009 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 2 PubMed: Gliem 2020 likely a sibling of patient 3 F ? Germany - - - - - 1 Stéphanie Cornelis
-/. 6 c.635G>A r.(?) p.(Arg212His) Unknown - benign g.94564483C>T g.94098927C>T het c.635G>A p.Arg212His - ABCA4_000009 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 3 PubMed: Gliem 2020 likely a sibling of patient 2 F ? Germany - - - - - 1 Stéphanie Cornelis
?/. - c.635G>A r.(?) p.(Arg212His) Unknown - VUS g.94564483C>T g.94098927C>T ABCA4 635G>A, Arg212His - ABCA4_000009 exonic polymorphism, Fisher's exact test (two-sided): independent ARM patients versus control: 0.13; Armitage trend test: all ARM patients versus controls: 0. PubMed: Schmidt_2003 - - Unknown ? independent ARM (n=140): 0.03; all ARM (n=330): 0.026; control subjects (n=118): 0 - - - DNA DHPLC - - ARMD ? PubMed: Schmidt_2003 case-control population study M;F - - - - - - - 1 LOVD
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