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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - VUS g.94577117G>A g.94111561G>A GCG > GTG - ABCA4_000237 - PubMed: Briggs 2001 - - Germline - ExAC 1, 121292, 0, 0.000008245 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic g.94577117G>A g.94111561G>A Ala60Val - ABCA4_000237 - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - - Germline - ExAC 1, 121292, 0, 0.000008245 - - - DNA SSCA, PCR, SEQ - - ? - PubMed: Fishman 1999, PubMed: Kang Derwent 2004 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - VUS g.94577117G>A g.94111561G>A A60E - ABCA4_000237 - PubMed: Rivera 2000 - - Germline - ExAC 1, 121292, 0, 0.000008245 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - VUS g.94577117G>A g.94111561G>A 179C > T - ABCA4_000237 - PubMed: Webster 2001 - - Germline - ExAC 1, 121292, 0, 0.000008245 - - - 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
?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - VUS g.94577117G>A g.94111561G>A 179C > T - ABCA4_000237 - PubMed: Webster 2001 - - Germline - ExAC 1, 121292, 0, 0.000008245 - - - 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
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic g.94577117G>A g.94111561G>A A60V - ABCA4_000237 - PubMed: Cideciyan 2009 - - Germline - 1, 121292, 0, 0.000008245 - - - DNA ? - - STGD1 - PubMed: Cideciyan 2009 ? F ? - ? - - - - 1 Stéphanie Cornelis
+/. 3 c.179C>T r.(179c>u) p.(Ala60Val) Parent #1 ACMG pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.179C>T r.(?) p.(Ala60Val) Both (homozygous) - likely pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Lee 2017, Journal: Lee 2017 - - Germline - - - - - DNA SEQ-NG-I - - STGD1 - PubMed: Lee 2017, Journal: Lee 2017 - - - - Indian - - - - 29 Jana Zernant
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Parent #1 - likely pathogenic g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
+?/. - c.179C>T r.(?) p.(Ala60Val) Parent #1 - likely pathogenic g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 792 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A A60V - ABCA4_000237 - PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - - Unknown - - - - - DNA ? - - retinal disease Unknown 333; 9; T9 PubMed: Olivo 2015PubMed: Melillo 2018PubMed: Melillo 2020 - M ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T p.(A60V) - ABCA4_000237 no variant 2nd chromosome PubMed: Schulz 2017 - - Unknown - - - - - DNA arraySEQ, SEQ-NG - RetChip retinal disease Unknown 381 PubMed: Schulz 2017 191 F, 144 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Both (homozygous) - likely pathogenic (recessive) g.94577117G>A g.94111561G>A p.[(A60V;T1277M)] - ABCA4_000237 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90167 PubMed: Lee 2017 - F ? - India - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Both (homozygous) - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met]) - ABCA4_000237 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9099 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Parent #1 - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T Ala60Val GCC>GTC - ABCA4_000237 - PubMed: Stone 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 792 PubMed: Stone 2017 - M ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Parent #1 - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.[179C>T;5693G>A] p.[Ala60Val;Arg1898His] - ABCA4_000237 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 66701 PubMed: Khan 2019 - - ? Germany - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T p.Ala60Val het - ABCA4_000237 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-272-093 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T, p.Ala60Val heterozygous - ABCA4_000237 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - 1, 121292, 0, 0.000008245 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 56-721 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T, p.Ala60Val Heterozygous - ABCA4_000237 - PubMed: Goetz 2020 - - Unknown - 1, 121292, 0, 0.000008245 - - - DNA SEQ - - retinal disease 6347-7773 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T, p.Ala60Val Heterozygous - ABCA4_000237 - PubMed: Goetz 2020 - - Unknown - 1, 121292, 0, 0.000008245 - - - DNA SEQ - - retinal disease 6348-7773 PubMed: Goetz 2020 6348 is a family member of 6347 - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179C>T, p.Ala60Val Heterozygous - ABCA4_000237 - PubMed: Goetz 2020 - - Unknown - 1, 121292, 0, 0.000008245 - - - DNA arraySEQ, SEQ - Gene Chip retinal disease 666-1183 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Both (homozygous) - likely pathogenic (recessive) g.94577117G>A g.94111561G>A p.[(A60V;T1277M)] - ABCA4_000237 - PubMed: Lee 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 90167 PubMed: Lee 2017 - F ? - India - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Both (homozygous) - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met]) - ABCA4_000237 - PubMed: Zernant 2017 - - Unknown yes - - - - DNA SEQ-NG-I - - retinal disease 9099 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
+?/. 3 c.179C>T r.(?) p.(Ala60Val) Unknown - likely pathogenic (recessive) g.94577117G>A g.94111561G>A c.179G>A p.(Ala60Val) - ABCA4_000237 - PubMed: Wang 2019 - - Unknown - - - - - DNA SEQ-NG-I - OTSP retinal disease #13456 PubMed: Wang 2019 - M ? China China - - - - 1 Stéphanie Cornelis
+/. - c.179C>T r.(179c>u) p.(Ala60Val) Paternal (confirmed) ACMG pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 no variant 2nd chromosome PubMed: Tian 2022, PubMed: Tian 2024 - - Germline yes - - - - DNA SEQ-NG-I - - STGD1 010034 PubMed: Tian 2022, PubMed: Tian 2024 - F no China - - - - - 1 Lu Tian
+/. - c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease L-0437 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0501 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(?) p.(Ala60Val) Parent #1 - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - DNA SEQ-NG - - retinal disease L-0626 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0741 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA DHPLC, SEQ - - retinal disease L-0869 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(?) p.(Ala60Val) Unknown - pathogenic (recessive) g.94577117G>A g.94111561G>A - - ABCA4_000237 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ - - retinal disease L-0943 PubMed: Cornelis 2024, Journal: Cornelis 2024 - F - France - - - - - 1 Frans Cremers
+/. - c.179C>T r.(179c>u) p.(Ala60Val) Parent #1 ACMG pathogenic g.94577117G>A g.94111561G>A - - ABCA4_000237 combination of variants not reported - - - Germline - - - - - DNA SEQ-NG - - STGD1 - - - ? - Mexico - - - - - 1 Oscar Francisco Chacón Camacho
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