Full data view for gene IDH3A

Information The variants shown are described using the NM_005530.2 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     
-?/. - c.-2C>T r.(?) p.(=) Unknown - likely benign g.78441744C>T - IDH3A(NM_005530.3):c.-2C>T - IDH3A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90+12_90+14del r.(=) p.(=) Unknown - likely benign g.78447629_78447631del - IDH3A(NM_005530.3):c.90+12_90+14delTAT - IDH3A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116G>T r.(?) p.(Gly39Val) Unknown - VUS g.78449915G>T - IDH3A(NM_005530.3):c.116G>T (p.G39V) - IDH3A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165T>C r.(?) p.(Asp55=) Unknown - likely benign g.78449964T>C - IDH3A(NM_005530.3):c.165T>C (p.D55=) - IDH3A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175-7C>T r.(=) p.(=) Unknown - likely benign g.78452427C>T g.78160085C>T IDH3A(NM_005530.3):c.175-7C>T - IDH3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204C>T r.(?) p.(Val68=) Unknown - likely benign g.78452463C>T - IDH3A(NM_005530.3):c.204C>T (p.V68=) - IDH3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364G>A r.(?) p.(Ala122Thr) Both (homozygous) - likely pathogenic (recessive) g.78453997G>A - - - IDH3A_000014 - PubMed: Peter 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease 102150L96 PubMed: Peter 2019 - M - Bosnia and Herzegovina - - - - - 1 Johan den Dunnen
?/. 5 c.364G>A r.(?) p.(Ala122Thr) Both (homozygous) - VUS g.78453997G>A - c.364G>A - IDH3A_000014 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. - c.403del r.(?) p.(Thr135Profs*6) Maternal (confirmed) - pathogenic (recessive) g.78454036del - - - IDH3A_000001 - PubMed: Pierrache 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamA PubMed: Pierrache 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Netherlands - - - - - 2 Johan den Dunnen
-?/. - c.411C>T r.(?) p.(Tyr137=) Unknown - likely benign g.78454044C>T - IDH3A(NM_005530.3):c.411C>T (p.Y137=) - IDH3A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.417T>A r.(?) p.(Asp139Glu) Unknown - VUS g.78454050T>A - IDH3A(NM_005530.3):c.417T>A (p.D139E) - IDH3A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417T>A r.(?) p.(Asp139Glu) Unknown - likely benign g.78454050T>A - IDH3A(NM_005530.3):c.417T>A (p.D139E) - IDH3A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463G>T r.(?) p.(Gly155*) Parent #2 - pathogenic (recessive) g.78454096G>T - - - IDH3A_000010 - PubMed: Pierrache 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamD PubMed: Pierrache 2017 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - South Africa - - - - - 2 Johan den Dunnen
?/. - c.467T>C r.(?) p.(Ile156Thr) Unknown - VUS g.78454100T>C g.78161758T>C IDH3A(NM_005530.3):c.467T>C (p.I156T) - IDH3A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Val164=) Unknown - likely benign g.78454590C>T g.78162248C>T IDH3A(NM_005530.3):c.492C>T (p.V164=) - IDH3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.524C>T r.(?) p.(Ala175Val) Both (homozygous) - pathogenic (recessive) g.78454622C>T - - - IDH3A_000012 - PubMed: Pierrache 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease FamC PubMed: Pierrache 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Netherlands - - - - - 1 Johan den Dunnen
+/. - c.612G>A r.612g>a p.Met204Ile Both (homozygous) - pathogenic (recessive) g.78455849G>A - - - IDH3A_000013 - PubMed: Sun 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease patient PubMed: Sun 2018 - M - China - - - - - 1 Johan den Dunnen
?/. - c.716T>C r.(?) p.(Met239Thr) Unknown - VUS g.78456059T>C g.78163717T>C - - IDH3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.716T>C r.(?) p.(Met239Thr) Paternal (confirmed) - pathogenic (recessive) g.78456059T>C - - - IDH3A_000002 - PubMed: Pierrache 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamA PubMed: Pierrache 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Netherlands - - - - - 2 Johan den Dunnen
-/. - c.801C>T r.(?) p.(Ile267=) Unknown - benign g.78457355C>T g.78165013C>T IDH3A(NM_005530.3):c.801C>T (p.I267=) - IDH3A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.833T>C r.(?) p.(Ile278Thr) Parent #1 - VUS g.78457387T>C - c.833T>C - IDH3A_000020 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.865-9G>A r.(=) p.(=) Unknown - likely benign g.78458483G>A g.78166141G>A IDH3A(NM_005530.3):c.865-9G>A - ACSBG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.910C>A r.(?) p.(Pro304Thr) Unknown - VUS g.78458537C>A g.78166195C>A IDH3A(NM_005530.3):c.910C>A (p.P304T) - ACSBG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.911C>A r.(?) p.(Pro304His) Parent #1 ACMG pathogenic (recessive) g.78458538C>A - - - IDH3A_000009 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.911C>A r.(?) p.(Pro304His) Paternal (confirmed) - pathogenic (recessive) g.78458538C>A - - - IDH3A_000009 - PubMed: Pierrache 2017, PubMed: Sharon 2019 - - Germline yes - - - - DNA SEQ - - retinal disease FamB PubMed: Pierrache 2017, PubMed: Sharon 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.911C>A r.(?) p.(Pro304His) Both (homozygous) - pathogenic (recessive) g.78458538C>A - 911G>T (Pro304His) - IDH3A_000009 - PubMed: Fattal-Valevski 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease patient PubMed: Fattal-Valevski 2017 - M no Israel African-N;Jewish - - - - 1 Johan den Dunnen
+/. - c.938T>C r.(?) p.(Met313Thr) Maternal (confirmed) ACMG pathogenic (recessive) g.78458565T>C - - - IDH3A_000008 - PubMed: Pierrache 2017, PubMed: Sharon 2019 - - Germline yes 2/2420 IRD families - - - DNA SEQ - - retinal disease FamB PubMed: Pierrache 2017, PubMed: Sharon 2019 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F;M - Israel - - - - - 2 Global Variome, with Curator vacancy
+/. - c.938T>C r.(?) p.(Met313Thr) Parent #2 - pathogenic (recessive) g.78458565T>C - - - IDH3A_000008 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.946C>T r.(?) p.(Arg316Cys) Maternal (confirmed) - pathogenic (recessive) g.78458573C>T - - - IDH3A_000011 - PubMed: Pierrache 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease FamD PubMed: Pierrache 2017 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents F - South Africa - - - - - 2 Johan den Dunnen
?/. 11 c.989C>T r.(?) p.(Ala330Val) Parent #2 - VUS g.78458616C>T - c.989C>T - IDH3A_000021 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.990G>A r.(?) p.(Ala330=) Unknown - likely benign g.78458617G>A g.78166275G>A IDH3A(NM_005530.3):c.990G>A (p.A330=) - ACSBG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1017+6A>G r.(=) p.(=) Unknown - likely benign g.78458650A>G - IDH3A(NM_005530.3):c.1017+6A>G - ACSBG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078C>T r.(?) p.(Arg360Cys) Unknown - VUS g.78461324C>T g.78168982C>T IDH3A(NM_005530.3):c.1078C>T (p.R360C) - ACSBG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1078C>T r.(?) p.(Arg360Cys) Unknown - likely benign g.78461324C>T - IDH3A(NM_005530.3):c.1078C>T (p.R360C) - ACSBG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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