Full data view for gene DDB1

Information The variants shown are described using the NM_001923.4 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-20104C>A r.(?) p.(=) Unknown - VUS g.61120544G>T - CYB561A3(NM_153611.4):c.461C>A (p.(Pro154His)) - CYBASC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11293G>A r.(?) p.(=) Unknown - likely benign g.61111733C>T - TKFC(NM_015533.4):c.1228C>T (p.(Arg410Cys)) - CYBASC3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10879A>G r.(?) p.(=) Unknown - likely benign g.61111319T>C - TKFC(NM_015533.4):c.983-9T>C - CYBASC3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10370C>T r.(?) p.(=) Unknown - likely benign g.61110810G>A - TKFC(NM_015533.4):c.866-4G>A - CYBASC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9603G>C r.(?) p.(=) Unknown - VUS g.61110043C>G - TKFC(NM_015533.4):c.691-3C>G - CYBASC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9520C>T r.(?) p.(=) Unknown - VUS g.61109960G>A - TKFC(NM_015533.4):c.683G>A (p.(Arg228Gln)) - CYBASC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9517C>T r.(?) p.(=) Unknown - VUS g.61109957G>A - DAK(NM_015533.3):c.680G>A (p.(Arg227His)) - CYBASC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6436C>G r.(?) p.(=) Unknown - VUS g.61106876G>C - TKFC(NM_015533.4):c.455G>C (p.(Arg152Pro)) - CYBASC3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6325C>T r.(?) p.(=) Unknown - likely benign g.61106765G>A - TKFC(NM_015533.4):c.344G>A (p.(Arg115Gln)) - CYBASC3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.61+72C>G r.(=) p.(=) Unknown - VUS g.61100308G>C g.61332836G>C - - DDB1_000004 - - - - Germline/De novo (untested) - - S35_Thalidomide - - DNA SEQ-NG-IT - - ? - - - - - Brazil - - - - - 1 Thayne Kowalski
?/. - c.153C>T r.(=) p.(=) Unknown - VUS g.61099072G>A g.61331600G>A - - DDB1_000003 - - - rs2230356 Germline/De novo (untested) - - S35_Thalidomide - - DNA SEQ-NG-IT - - ? - - - - - Brazil - - - - - 1 Thayne Kowalski
?/. - c.183T>G r.(?) p.(Ile61Met) Unknown - VUS g.61099042A>C - DDB1(NM_001923.5):c.183T>G (p.(Ile61Met)) - CYBASC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.340C>T r.(?) p.(Arg114Cys) Unknown - likely pathogenic g.61097044G>A - DDB1(NM_001923.4):c.340C>T (p.(Arg114Cys)) - CYBASC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341G>A r.(?) p.(Arg114His) Unknown - VUS g.61097043C>T - - - DDB1_000010 - - - rs1231861984 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.526C>T r.(?) p.(Pro176Ser) Unknown - VUS g.61096858G>A - DDB1(NM_001923.4):c.526C>T (p.(Pro176Ser)) - CYBASC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.551_559del r.(?) p.(Asp184_Gln186del) Unknown - pathogenic (dominant) g.61094360_61094368del g.61326888_61326896del - - DDB1_000009 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - white, Europe-North - - - - 1 Johan den Dunnen
+/. - c.562C>T r.(?) p.(Arg188Trp) Unknown - pathogenic (dominant) g.61094353G>A g.61326881G>A - - DDB1_000008 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.563G>A r.(?) p.(Arg188Gln) Unknown - pathogenic (dominant) g.61094352C>T g.61326880C>T - - DDB1_000007 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.637G>A r.(?) p.(Glu213Lys) Unknown - pathogenic (dominant) g.61094278C>T g.61326806C>T - - DDB1_000006 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Australia white - - - - 1 Johan den Dunnen
+/. - c.637G>A r.(?) p.(Glu213Lys) Unknown - pathogenic (dominant) g.61094278C>T g.61326806C>T - - DDB1_000006 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Armenia - - - - - 1 Johan den Dunnen
+/. - c.637G>A r.(?) p.(Glu213Lys) Unknown - pathogenic (dominant) g.61094278C>T g.61326806C>T - - DDB1_000006 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white - - - - 1 Johan den Dunnen
+/. - c.637G>A r.(?) p.(Glu213Lys) Unknown - pathogenic (dominant) g.61094278C>T g.61326806C>T - - DDB1_000006 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - white, Slavic - - - - 1 Johan den Dunnen
+?/. - c.643G>A r.(?) p.(Glu215Lys) Unknown - likely pathogenic g.61094272C>T g.61326800C>T DDB1(NM_001923.4):c.643G>A (p.(Glu215Lys)) - DDB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.679G>A r.(?) p.(Gly227Arg) Unknown - VUS g.61093166C>T - DDB1(NM_001923.5):c.679G>A (p.(Gly227Arg)) - DAK_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716A>G r.(?) p.(Tyr239Cys) Unknown - VUS g.61093129T>C - - - DAK_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.762+92C>A r.(=) p.(=) Unknown - VUS g.61092991G>T g.61325519G>T - - DDB1_000002 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT - - ? - - - - - Brazil - - - - - 1 Thayne Kowalski
?/. - c.763-5G>T r.spl? p.? Unknown - VUS g.61091614C>A - DDB1(NM_001923.5):c.763-5G>T - DAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.763-4G>T r.spl? p.? Unknown - VUS g.61091613C>A - DDB1(NM_001923.5):c.763-4G>T - DAK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843C>T r.(?) p.(Phe281=) Unknown - likely benign g.61091529G>A - DDB1(NM_001923.4):c.843C>T (p.F281=) - DAK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928A>G r.(?) p.(Ile310Val) Unknown - VUS g.61090560T>C - DDB1(NM_001923.5):c.928A>G (p.(Ile310Val)) - DAK_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>T r.(?) p.(Gly344Val) Unknown - VUS g.61089859C>A - DDB1(NM_001923.5):c.1031G>T (p.(Gly344Val)) - DAK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1285T>G r.(?) p.(Phe429Val) Unknown - pathogenic (dominant) g.61083980A>C g.61316508A>C - - DDB1_000005 - PubMed: White 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: White 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Mexico - - - - - 1 Johan den Dunnen
-?/. - c.1550A>G r.(?) p.(Tyr517Cys) Unknown - likely benign g.61081819T>C - DDB1(NM_001923.5):c.1550A>G (p.(Tyr517Cys)) - DAK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1587C>G r.(?) p.(Ile529Met) Unknown - VUS g.61081782G>C - DDB1(NM_001923.5):c.1587C>G (p.I529M) - DAK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1836C>A r.(?) p.(Phe612Leu) Unknown - VUS g.61081359G>T - DDB1(NM_001923.5):c.1836C>A (p.(Phe612Leu)) - DAK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1991A>G r.(?) p.(His664Arg) Unknown - VUS g.61081049T>C - DDB1(NM_001923.4):c.1991A>G (p.(His664Arg)) - DAK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2566+4A>G r.spl? p.? Both (homozygous) - VUS g.61077264T>C g.61309792T>C - - DDB1_000011 - - - - Germline yes - - - - DNA SEQ-NG - - DD - - - F yes Turkey - - - - - 1 Ece Sonmezler
?/. - c.2615C>T r.(?) p.(Ser872Phe) Unknown - VUS g.61076501G>A - DDB1(NM_001923.4):c.2615C>T (p.(Ser872Phe)) - DAK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2662-3C>A r.spl? p.? Unknown - likely benign g.61071510G>T - DDB1(NM_001923.5):c.2662-3C>A - DAK_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2833-318C>G r.(=) p.(=) Unknown - likely benign g.61070945G>C - DDB1(NM_001923.5):c.2833-318C>G - DAK_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2943-10C>T r.(=) p.(=) Unknown - likely benign g.61070233G>A - DDB1(NM_001923.5):c.2943-10C>T - DAK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3112+5G>T r.spl? p.? Unknown - likely benign g.61070049C>A - DDB1(NM_001923.5):c.3112+5G>T - DAK_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3216-8C>T r.(=) p.(=) Unknown - likely benign g.61068412G>A - DDB1(NM_001923.5):c.3216-8C>T - DAK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3365G>A r.(?) p.(Arg1122Gln) Unknown - VUS g.61067666C>T - DDB1(NM_001923.5):c.3365G>A (p.(Arg1122Gln)) - DAK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3374C>T r.(?) p.(Thr1125Ile) Unknown - VUS g.61067657G>A - DDB1(NM_001923.5):c.3374C>T (p.T1125I) - DAK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3392A>G r.(?) p.(Lys1131Arg) Unknown - VUS g.61067639T>C - DDB1(NM_001923.5):c.3392A>G (p.K1131R) - DAK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3231C>T r.(=) p.(=) Unknown - likely benign g.61064377G>A - DDB1(NM_001923.5):c.*3231C>T - DAK_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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