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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T - - ABCA4_000320 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.96). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Oishi 2014 - - Germline - ExAC 14, 121412, 0, 0.0001153 - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Oishi 2014 - ? ? Japan Japanese - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(1294g>a) p.(Glu432Lys) Parent #1 ACMG VUS g.94544208C>T g.94078652C>T - - ABCA4_000320 not statistically tested, classification unknown PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T - - ABCA4_000320 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201117452 Germline - 21/1187 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1187 retinitis pigmentosa cases - - Japan - - - - - 21 Yoshito Koyanagi
?/. - c.1294G>A r.(?) p.(Glu432Lys) Both (homozygous) - VUS g.94544208C>T g.94078652C>T - - ABCA4_000320 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201117452 Germline - 1/1187 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1187 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.1294G>A r.(?) p.(Glu432Lys) Unknown ACMG VUS g.94544208C>T - - - ABCA4_000320 - Zixi Sun 2020, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel RP19 SRF1118 Zixi Sun 2020, submitted - F - China - - - - - 1 Zixi Sun
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Both (homozygous) - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 - PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1249 PubMed: Koyanagi 2019 - - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1360 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1361 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1362 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1363 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1364 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1365 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1366 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1367 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1368 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1369 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1370 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1371 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1372 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1373 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1374 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1375 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1376 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1377 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1378 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1379 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 no variant 2nd chromosome PubMed: Koyanagi 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease Unknown 1380 PubMed: Koyanagi 2019 mutations were not reported per patient. - ? - Japan - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.(Glu432Lys) - ABCA4_000320 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease SRF1118 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T c.1294G>A p.Glu432Lys - ABCA4_000320 - PubMed: Sung 2019 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease P017 PubMed: Sung 2019 - - ? Korea, South (Republic) Korea - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Both (homozygous) - VUS g.94544208C>T g.94078652C>T c.[5929G>A;1294G>A] p.[Gly1977Ser;Glu432Lys] - ABCA4_000320 - PubMed: Sun 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 5135 PubMed: Sun 2020 - F ? China China - - - - 1 Stéphanie Cornelis
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T G1294A - ABCA4_000320 - PubMed: Katagiri 2014 - rs201117452 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#027 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - VUS g.94544208C>T g.94078652C>T G1294A - ABCA4_000320 - PubMed: Katagiri 2014 - rs201117452 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#024 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 10 c.1294G>A r.(?) p.(Glu432Lys) Unknown - likely pathogenic (recessive) g.94544208C>T - c.G1294A - ABCA4_000320 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
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