All transcript variants in gene RNF168

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

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.197C>T r.(?) p.(Thr66Ile) - VUS g.196229848G>A g.196502977G>A RNF168(NM_152617.3):c.197C>T (p.T66I) - C3orf43_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.235A>G r.(?) p.(Ile79Val) - VUS g.196229810T>C g.196502939T>C RNF168(NM_152617.3):c.235A>G (p.I79V) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.378+26del r.(=) p.(=) - benign g.196215462del g.196488591del RNF168(NM_152617.3):c.378+26delT - RNF168_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.482C>T r.(?) p.(Ala161Val) - likely benign g.196214346G>A g.196487475G>A RNF168(NM_152617.3):c.482C>T (p.(Ala161Val)) - RNF168_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.508G>A r.(?) p.(Glu170Lys) - VUS g.196214320C>T g.196487449C>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 r.(?) p.(Glu170Lys) - likely benign g.196214320C>T g.196487449C>T RNF168(NM_152617.3):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.508G>A r.(?) p.(Glu170Lys) - benign g.196214320C>T g.196487449C>T - - RNF168_000012 9 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs114025031 Germline - 9/2795 individuals - 0 - Mohammed Faruq
-?/. - c.529G>A r.(?) p.(Glu177Lys) - likely benign g.196214299C>T g.196487428C>T RNF168(NM_152617.3):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.529G>A r.(?) p.(Glu177Lys) - likely benign g.196214299C>T g.196487428C>T RNF168(NM_152617.3):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.558+20G>A r.(=) p.(=) - likely benign g.196214250C>T g.196487379C>T RNF168(NM_152617.3):c.558+20G>A - RNF168_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.704T>C r.(?) p.(Phe235Ser) - likely benign g.196202160A>G g.196475289A>G RNF168(NM_152617.3):c.704T>C (p.(Phe235Ser)) - RNF168_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1019C>T r.(?) p.(Ser340Leu) - likely benign g.196199387G>A g.196472516G>A RNF168(NM_152617.3):c.1019C>T (p.S340L) - RNF168_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1030G>A r.(?) p.(Ala344Thr) - likely benign g.196199376C>T g.196472505C>T RNF168(NM_152617.3):c.1030G>A (p.(Ala344Thr)) - RNF168_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1058G>T r.(?) p.(Ser353Ile) - likely benign g.196199348C>A g.196472477C>A RNF168(NM_152617.3):c.1058G>T (p.(Ser353Ile)) - RNF168_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1128G>A r.(?) p.(Glu376=) - likely benign g.196199278C>T g.196472407C>T RNF168(NM_152617.3):c.1128G>A (p.E376=) - RNF168_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1202C>A r.(?) p.(Pro401Gln) - benign g.196199204G>T g.196472333G>T RNF168(NM_152617.3):c.1202C>A (p.P401Q) - RNF168_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1275T>G r.(?) p.(Phe425Leu) - likely benign g.196199131A>C g.196472260A>C RNF168(NM_152617.3):c.1275T>G (p.F425L) - RNF168_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1278C>T r.(?) p.(Thr426=) - likely benign g.196199128G>A g.196472257G>A RNF168(NM_152617.3):c.1278C>T (p.T426=) - RNF168_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1409C>T r.(?) p.(Ser470Phe) - VUS g.196198997G>A g.196472126G>A RNF168(NM_152617.3):c.1409C>T (p.S470F) - RNF168_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1550A>G r.(?) p.(Lys517Arg) - likely benign g.196198856T>C g.196471985T>C RNF168(NM_152617.3):c.1550A>G (p.K517R) - RNF168_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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