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.

21 entries on 1 page. Showing entries 1 - 21.
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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T G172S - ABCA4_000207 - PubMed: Jaakson 2003 - - Germline - ExAC 56, 121358, 0, 0.0004614 - - - 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. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). ? ? - USA, Netherlands, Italy or Slovenia - - - - 1 Stéphanie Cornelis
+?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - likely pathogenic g.94568627C>T g.94103071C>T G172S - ABCA4_000207 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Passerini 2010 - - Germline - 56, 121358, 0, 0.0004614 - - - DNA PCR, DHPLC, SEQ - - STGD1 - PubMed: Passerini 2010 - ? ? Italy ? - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T G172S - ABCA4_000207 found no variant 2nd chromosome PubMed: Burke 2010 - - Germline - 56, 121358, 0, 0.0004614 - - - DNA PE, SEQ - APEX STGD1 - PubMed: Burke 2010 - M ? - ? - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T c.514G>A, p.Gly172Ser - ABCA4_000207 - PubMed: Roberts 2012 - - Germline - 56, 121358, 0, 0.0004614 - - - DNA PE - APEX ? - PubMed: Roberts 2012 cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies) ? ? South Africa In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry - - - - 1 Stéphanie Cornelis
+/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - pathogenic g.94568627C>T g.94103071C>T Gly172Ser - ABCA4_000207 On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01). PubMed: Battu 2015 - - Germline ? 56, 121358, 0, 0.0004614 - - - DNA SEQ-NG-I, PCR, SEQ - - STGD1 - PubMed: Battu 2015 - M ? India ? - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(514g>a) p.(Gly172Ser) Parent #1 ACMG VUS g.94568627C>T g.94103071C>T - - ABCA4_000207 variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser)) - ABCA4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser)) - ABCA4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser)) - ABCA4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514G>A r.(?) p.(Gly172Ser) Parent #1 - VUS g.94568627C>T g.94103071C>T [514G>A,2023G>A,6148G>C] - ABCA4_000207 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/32 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T c.514G>A (p.Gly172Ser) - ABCA4_000207 - PubMed: Verdina 2017 - - Unknown - - - - - DNA SEQ - - retinal disease 9 PubMed: Verdina 2017 - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Parent #1 - VUS g.94568627C>T g.94103071C>T c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu) - ABCA4_000207 - PubMed: Riera 2019 PubMed: Riera 2017 - - Unknown - - - - - DNA ? - - retinal disease STGD2_FiPS4F1.7 / Fi15/32 PubMed: Riera 2019 PubMed: Riera 2017 - M ? - white - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T c.514G>A p.Gly172Ser Het - ABCA4_000207 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2018-076-120 Prevention Genetics - - ? - white - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T c.514G>A p.Gly172Ser Het - ABCA4_000207 no variant 2nd chromosome Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2019-102-092 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T c.514G>A p.(Gly172Ser) - ABCA4_000207 - PubMed: Sodi 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 37 PubMed: Sodi 2018 - - ? Italy - - - - - 1 Stéphanie Cornelis
+?/. 5 c.514G>A r.(?) p.(Gly172Ser) Unknown - likely pathogenic g.94568627C>T - c.514G>A - ABCA4_000207 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T - ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser)) - ABCA4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.514G>A r.(?) p.(Gly172Ser) Parent #1 ACMG VUS g.94568627C>T g.94103071C>T - - ABCA4_000207 - PubMed: Corradi 2023, Journal: Corradi 2023 - - Germline - - - - - DNA MIPsm, SEQ-NG - - retinal disease Pat268 PubMed: Corradi 2023, Journal: Corradi 2023 - F - - - - - - - 1 Zelia Corradi
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T g.94103071C>T - - ABCA4_000207 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Unknown - - - - - DNA SEQ-NG - - retinal disease L-0082 PubMed: Cornelis 2024, Journal: Cornelis 2024 - M - France - - - - - 1 Frans Cremers
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown ACMG VUS g.94568627C>T g.94103071C>T - - ABCA4_000207 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ACHM-1297 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.514G>A r.(?) p.(Gly172Ser) Unknown - VUS g.94568627C>T - ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser)) - ABCA4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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