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.

30 entries on 1 page. Showing entries 1 - 30.
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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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Population     

Age at death     

VIP     

Data_av     

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Owner     
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Parent #1 - benign g.94461717C>A g.93996161C>A - - ABCA4_000003 predicted benign PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Parent #1 - benign g.94461717C>A g.93996161C>A - - ABCA4_000003 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Parent #1 - pathogenic g.94461717C>A g.93996161C>A CGC 3323 TGC AGT 6764 ATT - ABCA4_000003 - PubMed: Ducroq 2002 - - Germline ? - - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? France ? - - - - 1 Stéphanie Cornelis
-?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - likely benign g.94461717C>A g.93996161C>A AGT 6764 ATT - ABCA4_000003 - PubMed: Ducroq 2002 - - Germline ? ExAC 9726, 121220, 1412, 0.08023 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? South Africa ? - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A AGT 6764 ATT - ABCA4_000003 - PubMed: Ducroq 2002 - - Germline - ExAC 9726, 121220, 1412, 0.08023 - - - DNA DHPLC, SEQ - - CORD - PubMed: Ducroq 2002 - ? ? - African - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A 6764G>T - ABCA4_000003 - PubMed: Valverde 2007 - - Germline - ExAC 9726, 121220, 1412, 0.08023 - - - DNA PCR, PE, SEQ, DHPLC - APEX CORD - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A 6764G>T - ABCA4_000003 - PubMed: Valverde 2007 - - Germline - 9726, 121220, 1412, 0.08023 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A 6764G>T - ABCA4_000003 - PubMed: Valverde 2007 - - Germline - 9726, 121220, 1412, 0.08023 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A 6764G>T - ABCA4_000003 - PubMed: Valverde 2007 - - Germline - 9726, 121220, 1412, 0.08023 - - - DNA PCR, PE, SEQ, DHPLC - APEX retinal disease - PubMed: Valverde 2007 - ? ? Spain - - - - - 1 Stéphanie Cornelis
-?/. 49 c.6764G>T r.(6764g>u) p.(Ser2255Ile) Parent #1 ACMG likely benign g.94461717C>A g.93996161C>A - - ABCA4_000003 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A - - ABCA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A - - ABCA4_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs6666652 Germline - 47/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 47 Yoshito Koyanagi
?/. - c.6764G>T r.(?) p.(Ser2255Ile) Both (homozygous) - VUS g.94461717C>A g.93996161C>A - - ABCA4_000003 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs6666652 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.6764G>T r.(?) p.(Ser2255Ile) Parent #1 - benign g.94461717C>A g.93996161C>A - - ABCA4_000003 235 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6666652 Germline - 235/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 235 Mohammed Faruq
-/. - c.6764G>T r.(?) p.(Ser2255Ile) Both (homozygous) - benign g.94461717C>A g.93996161C>A - - ABCA4_000003 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6666652 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
?/. - c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A g.93996161C>A - - ABCA4_000003 - PubMed: Tsipi 2016 - - Germline - - - - - DNA SEQ - - retinal disease Pat13 PubMed: Tsipi 2016 see paper F - Greece - - - - - 1 LOVD
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Parent #1 - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0050 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0042 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 no variant 2nd chromosome; segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0053 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T p.(S2255I) - ABCA4_000003 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 569 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0018 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0037 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0080 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A S2255I - ABCA4_000003 segregation analysis done when possible PubMed: Chen 2010 - - Unknown - - - - - DNA SEQ - - retinal disease S0054 PubMed: Chen 2010 - - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T,p.Ser2255Ile - ABCA4_000003 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13095 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T,p.Ser2255Ile - ABCA4_000003 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13097 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T,p.Ser2255Ile - ABCA4_000003 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 17003 PubMed: Fujinami 2019 191 F, 154 M in this study - ? United States - - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T p.Ser2255Ile - ABCA4_000003 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P015 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
-/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - benign g.94461717C>A g.93996161C>A c.6764G>T, p.Ser2255Ile - ABCA4_000003 - PubMed: Piccardi 2019 - - Unknown - - - - - DNA SSCA, SEQ - SSCP coding region of ABCA4 retinal disease 11. PubMed: Piccardi 2019 - M ? Italy - - - - - 1 Stéphanie Cornelis
?/. 49 c.6764G>T r.(?) p.(Ser2255Ile) Unknown - VUS g.94461717C>A - c.6764G>T - ABCA4_000003 - PubMed: _Audo-2012 - - Unknown - - - - - DNA SEQ, SEQ-NG-S blood - retinal disease - PubMed: _Audo-2012 Patients with unsolved genotype and unlikely disease causing mutations, but reported as polymorphism - - - - - - - - 1 LOVD
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