Full data view for gene DDB2

Information The variants shown are described using the NM_000107.2 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. 1 c.111_112del r.(?) p.(Ala39Glufs*6) Both (homozygous) - pathogenic (recessive) g.47236798_47236799del g.47215247_47215248del - - DDB2_000016 - PubMed: Yang 2020 - - Germline - - - - - DNA SEQ - gene panel XPE patient PubMed: Yang 2020 2-generation family, 1 affected, unaffected heterozygous parents F yes China - - - - - 1 Johan den Dunnen
-/. - c.127+5T>G r.spl? p.? Unknown - benign g.47236819T>G g.47215268T>G DDB2(NM_000107.2):c.127+5T>G - DDB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127+5T>G r.spl? p.? Unknown - likely benign g.47236819T>G g.47215268T>G DDB2(NM_000107.2):c.127+5T>G - DDB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.161G>A r.(?) p.(Trp54*) Both (homozygous) - pathogenic (recessive) g.47237920G>A g.47216369G>A - - DDB2_000020 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP98BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.281T>G r.(?) p.(Phe94Cys) Unknown - VUS g.47238425T>G - DDB2(NM_000107.3):c.281T>G (p.(Phe94Cys)) - DDB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378= r.(=) p.(Thr126=) Unknown - benign g.47238522T>C g.47216971= DDB2(NM_000107.3):c.378T>C (p.T126=) - DDB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.47254363A>C g.47232812A>C - - DDB2_000021 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP100BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.574C>T r.(?) p.(Arg192*) Both (homozygous) - pathogenic (recessive) g.47254482C>T g.47232931C>T - - DDB2_000014 - PubMed: Vahteristo 2007 - - Germline - - - - - DNA SEQ-NG - - XPE patient PubMed: Vahteristo 2007 - M - Finland - - - - - 1 Johan den Dunnen
-?/. - c.602+20G>A r.(=) p.(=) Unknown - likely benign g.47254530G>A - DDB2(NM_000107.2):c.602+20G>A - DDB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.702+4C>T r.spl? p.? Unknown - VUS g.47256227C>T - DDB2(NM_000107.3):c.702+4C>T - ACP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.716G>T r.(?) p.(Arg239Ile) Parent #2 - pathogenic (recessive) g.47256321G>T g.47234770G>T - - DDB2_000022 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP105BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.730A>G r.730a>g p.Lys244Glu Both (homozygous) - pathogenic (recessive) g.47256335A>G g.47234784A>G 730A>G - DDB2_000007 - PubMed: Nichols 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE XP82TO PubMed: Nichols 1996 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.730_733del r.(?) p.(Lys244Ter) Unknown - pathogenic g.47256335_47256338del g.47234784_47234787del DDB2(NM_000107.2):c.730_733delAAAG (p.K244*) - DDB2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.730_733del r.[730_733del,703_880del,703_1023del] p.[Lys244*,Trp236fs,Leu235_Lys341del] Both (homozygous) - pathogenic (recessive) g.47256335_47256338del g.47234784_47234787del 905–908delAAAG - DDB2_000017 - PubMed: Rapic-Otrin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE XP27PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - 1 Johan den Dunnen
-/. - c.738G>A r.(?) p.(Thr246=) Unknown - benign g.47256343G>A g.47234792G>A DDB2(NM_000107.2):c.738G>A (p.T246=) - DDB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.738G>A r.(?) p.(Thr246=) Unknown - benign g.47256343G>A - DDB2(NM_000107.2):c.738G>A (p.T246=) - DDB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.818G>A r.818g>a p.Arg273His Both (homozygous) - pathogenic (recessive) g.47256423G>A g.47234872G>A 818G>A - DDB2_000006 - PubMed: Nichols 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE XP2RO PubMed: Nichols 1996 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.818G>A r.(?) p.(Arg273His) Both (homozygous) - pathogenic (recessive) g.47256423G>A g.47234872G>A - - DDB2_000006 - PubMed: Oh 2011 - - Germline yes - - - - DNA SEQ - - XPE FamBPatXP37BE PubMed: Oh 2011 2-generation family, affected sister/brother, unaffected heterozygous parents/relatives F - Netherlands;United States - - - - - 2 Johan den Dunnen
+/. - c.818G>A r.(?) p.(Arg273His) Both (homozygous) - pathogenic (recessive) g.47256423G>A g.47234872G>A - - DDB2_000006 - PubMed: Oh 2011 - - Germline yes - - - - DNA SEQ - - XPE FamBPatXP66BE PubMed: Oh 2011 brother M - United States - - - - - 1 Johan den Dunnen
+/. - c.818G>A r.(?) p.(Arg273His) Unknown - pathogenic g.47256423G>A - DDB2(NM_000107.3):c.818G>A (p.(Arg273His)) - DDB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.857C>T r.(?) p.(Pro286Leu) Unknown - VUS g.47256462C>T g.47234911C>T DDB2(NM_000107.2):c.857C>T (p.P286L) - DDB2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.914C>A r.(?) p.(Thr305Asn) Both (homozygous) - pathogenic (recessive) g.47256854C>A g.47235303C>A - - DDB2_000015 - PubMed: Oh 2011 - - Germline - - - - - DNA ARMS - - XPE XP1GO PubMed: Oh 2011 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - Germany - - - - - 1 Johan den Dunnen
+/. 7 c.918_919delinsAT r.918_919delinsau p.Asp307Tyr Both (homozygous) - pathogenic (recessive) g.47256858_47256859delinsAT g.47235307_47235308delinsAT 1093G>A;1094G>T - DDB2_000010 - PubMed: Rapic-Otrin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE XP25PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - 1 Johan den Dunnen
+/. - c.937C>T r.937c>u p.Arg313* Both (homozygous) - pathogenic (recessive) g.47256877C>T g.47235326C>T - - DDB2_000008 - PubMed: Itoh 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE Ops1 PubMed: Itoh 1999 - F - Japan - - - - - 1 Johan den Dunnen
?/. - c.1021A>G r.(?) p.(Lys341Glu) Unknown - VUS g.47256961A>G g.47235410A>G DDB2(NM_000107.2):c.1021A>G (p.K341E) - DDB2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.1023+1G>T r.703_1023del p.Leu235_Lys341del Both (homozygous) - pathogenic (recessive) g.47256964G>T g.47235413G>T IVS7+1G>T - DDB2_000009 - PubMed: Rapic-Otrin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE XP23PV PubMed: Rapic-Otrin 2003 2-generation family, 1 affected, unaffected heterozygous parents - - Italy - - - - - 1 Johan den Dunnen
+/. - c.1027G>C r.(?) p.(Ala343Pro) Both (homozygous) - pathogenic (recessive) g.47259391G>C g.47237840G>C - - DDB2_000005 - PubMed: de Souza Timoteo 2023 - - Germline yes - - - - DNA SEQ-NG - - XPE FamPat2 PubMed: de Souza Timoteo 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes Brazil - - - - - 2 Johan den Dunnen
+/. - c.1027G>C r.(?) p.(Ala343Pro) Both (homozygous) - pathogenic (recessive) g.47259391G>C g.47237840G>C - - DDB2_000005 - PubMed: de Souza Timoteo 2023 - - Germline yes - - - - DNA SEQ-NG - - XPE FamPatII4 PubMed: de Souza Timoteo 2023 sister F yes Brazil - - - - - 1 Johan den Dunnen
+/. - c.1045_1047del r.1045_1047del p.Asn349del Parent #2 - pathogenic (recessive) g.47259409_47259411del g.47237858_47237860del 1220–1222delAAC - DDB2_000012 - PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE GM01389 PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1045_1047del r.(?) p.(Asn349del) Parent #2 - pathogenic (recessive) g.47259409_47259411del g.47237858_47237860del 1045_1047delAAC - DDB2_000012 - PubMed: Oh 2011 - - Germline - - - - - DNA SEQ - - XPE XP408BE/GM01389 PubMed: Oh 2011 - F - United States white - - - - 1 Johan den Dunnen
+/. - c.1049T>C r.(?) p.(Leu350Pro) Parent #1 - pathogenic (recessive) g.47259413T>C g.47237862T>C T1224C - DDB2_000011 - PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - XPE GM01389 PubMed: Nichols 2000, PubMed: Rapic-Otrin 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1049T>C r.(?) p.(Leu350Pro) Parent #1 - pathogenic (recessive) g.47259413T>C g.47237862T>C - - DDB2_000011 - PubMed: Oh 2011 - - Germline - - - - - DNA SEQ - - XPE XP408BE/GM01389 PubMed: Oh 2011 - F - United States white - - - - 1 Johan den Dunnen
+/. - c.1070C>T r.(?) p.(Pro357Leu) Parent #1 - pathogenic (recessive) g.47259434C>T g.47237883C>T - - DDB2_000023 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP105BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.1140del r.(?) p.(Lys381Argfs*2) Both (homozygous) - pathogenic (recessive) g.47259504del g.47237953del 1138delG - DDB2_000013 - PubMed: Ben Rekaya 2018 - - Germline yes - - - - DNA SEQ-NG - WES XPE XP51/73MAH-1 PubMed: Ben Rekaya 2018 5-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives F;M yes Tunisia - - - - - 1 Johan den Dunnen
+/. - c.1149del r.(?) p.(Met383Ilefs*49) Both (homozygous) - pathogenic (recessive) g.47259513del g.47237962del 1149delG - DDB2_000024 - PubMed: Fassihi 2016 - - Germline - - - - - DNA SEQ - - XP XP115BR PubMed: Fassihi 2016 - - - United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
-?/. - c.1228G>A r.(?) p.(Ala410Thr) Unknown - likely benign g.47259728G>A - DDB2(NM_000107.2):c.1228G>A (p.A410T) - DDB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1228G>A r.(?) p.(Ala410Thr) Unknown - likely benign g.47259728G>A - DDB2(NM_000107.2):c.1228G>A (p.A410T) - DDB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1228G>A r.(?) p.(Ala410Thr) Unknown - likely benign g.47259728G>A - DDB2(NM_000107.2):c.1228G>A (p.A410T) - DDB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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