All transcript variants in gene RNF168

Information The variants shown are described using the NM_152617.3 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. - c.-5063T>C likely benign r.(?) p.(=) g.196235107A>G - SMCO1(NM_001077657.1):c.296T>C (p.(Val99Ala)) - C3orf43_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.73G>A likely benign r.(?) p.(Glu25Lys) g.196229972C>T - RNF168(NM_152617.3):c.73G>A (p.(Glu25Lys)) - C3orf43_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.74A>G likely benign r.(?) p.(Glu25Gly) g.196229971T>C - RNF168(NM_152617.3):c.74A>G (p.(Glu25Gly)) - C3orf43_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.197C>T VUS r.(?) p.(Thr66Ile) g.196229848G>A - RNF168(NM_152617.3):c.197C>T (p.T66I) - C3orf43_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.235A>G likely benign r.(?) p.(Ile79Val) g.196229810T>C - RNF168(NM_152617.3):c.235A>G (p.(Ile79Val)) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.235A>G VUS r.(?) p.(Ile79Val) g.196229810T>C - RNF168(NM_152617.3):c.235A>G (p.(Ile79Val)) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.378+26del benign r.(=) p.(=) g.196215462del - RNF168(NM_152617.3):c.378+26delT - RNF168_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.379G>A likely benign r.(?) p.(Val127Met) g.196214449C>T - RNF168(NM_152617.3):c.379G>A (p.(Val127Met)) - RNF168_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.412G>T likely pathogenic r.(?) p.(Glu138*) g.196214416C>A - RNF168(NM_152617.3):c.412G>T (p.(Glu138*)) - RNF168_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.412G>T likely pathogenic r.(?) p.(Glu138*) g.196214416C>A - RNF168(NM_152617.3):c.412G>T (p.(Glu138*)) - RNF168_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.482C>T likely benign r.(?) p.(Ala161Val) g.196214346G>A - RNF168(NM_152617.3):c.482C>T (p.(Ala161Val)) - RNF168_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.508G>A VUS r.(?) p.(Glu170Lys) g.196214320C>T - RNF168(NM_152617.3):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.508G>A likely benign r.(?) p.(Glu170Lys) g.196214320C>T - RNF168(NM_152617.3):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.529G>A likely benign r.(?) p.(Glu177Lys) g.196214299C>T - RNF168(NM_152617.3):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.704T>C likely benign r.(?) p.(Phe235Ser) g.196202160A>G - RNF168(NM_152617.3):c.704T>C (p.(Phe235Ser)) - RNF168_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1030G>A likely benign r.(?) p.(Ala344Thr) g.196199376C>T - RNF168(NM_152617.3):c.1030G>A (p.(Ala344Thr)) - RNF168_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1058G>T likely benign r.(?) p.(Ser353Ile) g.196199348C>A - RNF168(NM_152617.3):c.1058G>T (p.(Ser353Ile)) - RNF168_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1202C>A benign r.(?) p.(Pro401Gln) g.196199204G>T - RNF168(NM_152617.3):c.1202C>A (p.P401Q) - RNF168_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1275T>G likely benign r.(?) p.(Phe425Leu) g.196199131A>C - RNF168(NM_152617.3):c.1275T>G (p.F425L) - RNF168_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1278C>T likely benign r.(?) p.(=) g.196199128G>A - RNF168(NM_152617.3):c.1278C>T (p.T426=) - RNF168_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1409C>T VUS r.(?) p.(Ser470Phe) g.196198997G>A - RNF168(NM_152617.3):c.1409C>T (p.S470F) - RNF168_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
Legend