Full data view for gene IDH3B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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     
+/. - 589delA r.(?) p.(Ile197Leufs*26) Both (homozygous) - pathogenic g.2641179del g.2660533del IDH3B 589delA, p.I197fs - IDH3B_000036 different transcript, NM_006899.4(IDH3B):c.589del, p.(Ile197Leufs*26) = homozygous PubMed: Hartong 2008 - - Germline yes - - - - DNA SEQ - - retinal disease Family 6897_II:1 PubMed: Hartong 2008 Family 6897 F yes - - - - - - 1 LOVD
+/. - 589delA r.(?) p.(Ile197Leufs*26) Both (homozygous) - pathogenic g.2641179del g.2660533del IDH3B 589delA, p.I197fs - IDH3B_000036 homozygous PubMed: Hartong 2008 - - Germline yes - - - - DNA SEQ - - retinal disease Family 6897_II:2 PubMed: Hartong 2008 Family 6897 M yes - - - - - - 1 LOVD
-/. - c.36+6G>A r.(=) p.(=) Unknown - benign g.2644793C>T g.2664147C>T IDH3B(NM_006899.5):c.36+6G>A - IDH3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.37-1G>A r.spl? p.? Unknown - VUS g.2644652C>T g.2664006C>T IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A - IDH3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37-1G>A r.spl? p.? Unknown - pathogenic g.2644652C>T - IDH3B(NM_006899.4):c.37-1G>A, IDH3B(NM_006899.5):c.37-1G>A - IDH3B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40C>A r.(?) p.(Leu14Met) Unknown - VUS g.2644648G>T g.2664002G>T - - IDH3B_000030 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP319 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.50_51insTT r.(?) p.(Gly18SerfsTer10) Unknown - likely pathogenic g.2644637_2644638insAA - IDH3B(NM_006899.4):c.50_51insTT (p.G18Sfs*10) - IDH3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.59del r.(?) p.(Pro20Leufs*7) Both (homozygous) ACMG likely pathogenic g.2644631del g.2663985del IDH3B c.59del, p.(Pro20Leufs*7), c.59del, p.(Pro20Leufs*7) - IDH3B_000031 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 145 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. - c.74G>A r.(?) p.(Gly25Asp) Unknown - likely benign g.2644614C>T - IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D) - IDH3B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74G>A r.(?) p.(Gly25Asp) Unknown - likely benign g.2644614C>T - IDH3B(NM_006899.4):c.74G>A (p.G25D), IDH3B(NM_006899.5):c.74G>A (p.G25D) - IDH3B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82A>G r.(?) p.(Thr28Ala) Unknown - likely benign g.2644606T>C g.2663960T>C IDH3B(NM_006899.4):c.82A>G (p.T28A) - IDH3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116A>G r.(?) p.(Gln39Arg) Unknown - VUS g.2644572T>C g.2663926T>C - - IDH3B_000029 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP056 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-/. - c.117+6C>A r.(=) p.(=) Unknown - benign g.2644565G>T g.2663919G>T IDH3B(NM_006899.5):c.117+6C>A - IDH3B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117+13C>G r.(=) p.(=) Unknown - likely benign g.2644558G>C g.2663912G>C IDH3B(NM_006899.5):c.117+13C>G - IDH3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.118-3G>C r.spl? p.? Unknown - benign g.2644407C>G g.2663761C>G IDH3B(NM_006899.5):c.118-3G>C - IDH3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.118-3G>C r.spl? p.? Unknown - benign g.2644407C>G g.2663761C>G - - IDH3B_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2073193 Germline - 564/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 564 Yoshito Koyanagi
-/. - c.118-3G>C r.spl? p.? Both (homozygous) - benign g.2644407C>G g.2663761C>G - - IDH3B_000007 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs2073193 Germline - 419/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 419 Yoshito Koyanagi
-?/. - c.165G>A r.(?) p.(Pro55=) Unknown - likely benign g.2644357C>T g.2663711C>T IDH3B(NM_006899.4):c.165G>A (p.P55=) - IDH3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.184G>T r.(?) p.(Glu62*) Both (homozygous) - likely pathogenic g.2644338C>A - c.184G>T - IDH3B_000043 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-/. - c.228C>T r.(?) p.(Val76=) Unknown - benign g.2644201G>A g.2663555G>A IDH3B(NM_006899.5):c.228C>T (p.V76=) - IDH3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.252C>T r.(?) p.(His84=) Unknown - benign g.2644177G>A g.2663531G>A IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=) - IDH3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(His84=) Unknown - likely benign g.2644177G>A - IDH3B(NM_006899.4):c.252C>T (p.H84=), IDH3B(NM_006899.5):c.252C>T (p.H84=) - IDH3B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395T>C r.(?) p.(Leu132Pro) Both (homozygous) - pathogenic g.2641558A>G g.2660912A>G IDH3B c.395T>C, p.L132P; p.L98P in mature protein - IDH3B_000037 homozygous PubMed: Hartong 2008 - - Germline yes - - - - DNA SEQ - - retinal disease Family E067_II:4 PubMed: Hartong 2008 Family E067 F yes - - - - - - 1 LOVD
-?/. - c.399-6C>T r.(=) p.(=) Unknown - likely benign g.2641481G>A g.2660835G>A IDH3B(NM_006899.4):c.399-6C>T - IDH3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532A>G r.(?) p.(Ser178Gly) Unknown ACMG VUS g.2641236T>C g.2660590T>C IDH3B:NM_001258384 c.A532G, p.S178G - IDH3B_000033 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-299 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.547del r.(?) p.(Ile183LeufsTer4) Unknown - VUS g.2641221del g.2660575del IDH3B(NM_006899.5):c.547delA (p.I183Lfs*4) - IDH3B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.601G>C r.(?) p.(Ala201Pro) Both (homozygous) - VUS g.2641167C>G - c.601G>C - IDH3B_000042 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+?/. - c.609C>G r.(?) p.(Asp203Glu) Unknown - likely pathogenic (recessive) g.2641159G>C g.2660513G>C - - IDH3B_000028 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP340 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. - c.609C>G r.(?) p.(Asp203Glu) Unknown - likely pathogenic (recessive) g.2641159G>C g.2660513G>C - - IDH3B_000028 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP341 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
-?/. - c.636G>A r.(?) p.(Lys212=) Unknown - likely benign g.2641132C>T g.2660486C>T IDH3B(NM_006899.4):c.636G>A (p.K212=) - IDH3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665T>C r.(?) p.(Met222Thr) Unknown - VUS g.2641103A>G g.2660457A>G IDH3B(NM_006899.5):c.665T>C (p.M222T) - IDH3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.684G>C r.(?) p.(Leu228Phe) Unknown - VUS g.2640993C>G - IDH3B(NM_006899.4):c.684G>C (p.L228F) - IDH3B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830T>C r.(?) p.(Ile277Thr) Unknown - VUS g.2640761A>G - IDH3B(NM_006899.4):c.830T>C (p.I277T) - IDH3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.857G>A r.(?) p.(Gly286Glu) Both (homozygous) ACMG likely pathogenic g.2640734C>T g.2660088C>T - - IDH3B_000015 ACMG PM1, PM2 ,PP2, PP3, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 3868 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.880G>A r.(?) p.(Glu294Lys) Both (homozygous) - VUS g.2640711C>T g.2660065C>T - - IDH3B_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.900C>T r.(?) p.(Tyr300=) Unknown - likely benign g.2640691G>A - IDH3B(NM_006899.4):c.900C>T (p.Y300=) - IDH3B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1000C>T r.(?) p.(Arg334Trp) Unknown - VUS g.2640355G>A g.2659709G>A - - IDH3B_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374613588 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+?/. - c.1011-8A>T r.spl p.? Unknown - likely pathogenic (recessive) g.2640239T>A g.2659593T>A - - IDH3B_000027 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP295 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
-?/. - c.1026C>T r.(?) p.(Ser342=) Unknown - likely benign g.2640216G>A - IDH3B(NM_006899.4):c.1026C>T (p.S342=) - IDH3B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1028G>T r.(?) p.(Ser343Ile) Unknown - VUS g.2640214C>A - IDH3B(NM_006899.4):c.1028G>T (p.S343I) - IDH3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1047G>A r.(?) p.(Val349=) Unknown - benign g.2640195C>T g.2659549C>T IDH3B(NM_006899.5):c.1047G>A (p.V349=) - IDH3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*419C>G r.(=) p.(=) Unknown - VUS g.2639480G>C g.2658834G>C - - IDH3B_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - 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.*425C>G r.(=) p.(=) Unknown - VUS g.2639474G>C g.2658828G>C - - IDH3B_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs762623115 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.*481C>G r.(=) p.(=) Unknown - VUS g.2639418G>C - IDH3B(NM_006899.4):c.1137C>G (p.H379Q) - IDH3B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*489C>G r.(=) p.(=) Unknown - benign g.2639410G>C g.2658764G>C IDH3B(NM_006899.5):c.1145C>G (p.T382S) - IDH3B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*792C>T r.(=) p.(=) Parent #1 - VUS g.2639107G>A g.2658461G>A ENST00000380851.5:c.1133C>T (Ala378Val) - IDH3B_000021 heterozygous variant only PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
-?/. - c.*811G>A r.(=) p.(=) Unknown - likely benign g.2639088C>T - IDH3B(NM_174855.3):c.1152G>A (p.*384=) - IDH3B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1051C>T r.(=) p.(=) Unknown - VUS g.2638848G>A g.2658202G>A NOP56(NM_006392.3):c.1693G>A (p.E565K) - NOP56_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1169G>A r.(=) p.(=) Unknown - likely benign g.2638730C>T - NOP56(NM_006392.4):c.1575C>T (p.T525=) - IDH3B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2472G>A r.(=) p.(=) Unknown - likely benign g.2637427C>T - NOP56(NM_006392.4):c.1167C>T (p.P389=) - IDH3B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3281G>C r.(=) p.(=) Unknown - likely benign g.2636618C>G g.2655972C>G NOP56(NM_006392.3):c.948C>G (p.T316=) - NOP56_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3863C>T r.(=) p.(=) Unknown - likely benign g.2636036G>A - NOP56(NM_006392.4):c.635G>A (p.(Arg212His)) - IDH3B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4511_*4513del r.(=) p.(=) Unknown - likely benign g.2635390_2635392del - NOP56(NM_006392.4):c.371-5_371-3delCTT - IDH3B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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