Full data view for gene RNF168

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

46 entries on 1 page. Showing entries 1 - 46.
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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.1A>G r.(?) p.(Met1?) Unknown - VUS g.196230044T>C - RNF168(NM_152617.3):c.1A>G (p.M1?) - C3orf43_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73G>A r.(?) p.(Glu25Lys) Unknown - VUS g.196229972C>T - RNF168(NM_152617.4):c.73G>A (p.E25K) - C3orf43_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74A>G r.(?) p.(Glu25Gly) Unknown - VUS g.196229971T>C - RNF168(NM_152617.4):c.74A>G (p.E25G) - C3orf43_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197C>T r.(?) p.(Thr66Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209C>A r.(?) p.(Ser70Tyr) Unknown - VUS g.196229836G>T - RNF168(NM_152617.3):c.209C>A (p.S70Y) - C3orf43_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235A>G r.(?) p.(Ile79Val) Unknown - VUS g.196229810T>C g.196502939T>C RNF168(NM_152617.3):c.235A>G (p.I79V, p.(Ile79Val)) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235A>G r.(?) p.(Ile79Val) Unknown - VUS g.196229810T>C g.196502939T>C RNF168(NM_152617.3):c.235A>G (p.I79V, p.(Ile79Val)) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235A>G r.(?) p.(Ile79Val) Unknown - likely benign g.196229810T>C - RNF168(NM_152617.3):c.235A>G (p.I79V, p.(Ile79Val)) - RNF168_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>G r.(?) p.(Gly94=) Unknown - likely benign g.196229763G>C - RNF168(NM_152617.3):c.282C>G (p.G94=) - C3orf43_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.301+7_301+20del r.(=) p.(=) Unknown - likely benign g.196229726_196229739del - RNF168(NM_152617.3):c.301+7_301+20delAAACCATGGCGTGT - C3orf43_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.307G>A r.(?) p.(Asp103Asn) Both (homozygous) ACMG VUS g.196215549C>T g.196488678C>T - - RNF168_000026 potential disease-modifying variant may explain blended phenotype PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat27,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - United States Hispanic;Latino - - - - 1 Johan den Dunnen
-/. - c.378+26del r.(=) p.(=) Unknown - benign g.196215462del g.196488591del RNF168(NM_152617.4):c.378+26delT - RNF168_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419A>G r.(?) p.(Lys140Arg) Unknown - VUS g.196214409T>C - - - RNF168_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482C>T r.(?) p.(Ala161Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482C>T r.(?) p.(Ala161Val) Unknown - VUS g.196214346G>A - - - RNF168_000013 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - VUS g.196214320C>T g.196487449C>T RNF168(NM_152617.3):c.508G>A (p.E170K), RNF168(NM_152617.4):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - likely benign g.196214320C>T g.196487449C>T RNF168(NM_152617.3):c.508G>A (p.E170K), RNF168(NM_152617.4):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508G>A r.(?) p.(Glu170Lys) Parent #1 - benign g.196214320C>T g.196487449C>T - - RNF168_000012 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114025031 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-?/. - c.508G>A r.(?) p.(Glu170Lys) Unknown - likely benign g.196214320C>T - RNF168(NM_152617.3):c.508G>A (p.E170K), RNF168(NM_152617.4):c.508G>A (p.E170K) - RNF168_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - likely benign g.196214299C>T g.196487428C>T RNF168(NM_152617.3):c.529G>A (p.E177K), RNF168(NM_152617.4):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - likely benign g.196214299C>T g.196487428C>T RNF168(NM_152617.3):c.529G>A (p.E177K), RNF168(NM_152617.4):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529G>A r.(?) p.(Glu177Lys) Unknown - likely benign g.196214299C>T - RNF168(NM_152617.3):c.529G>A (p.E177K), RNF168(NM_152617.4):c.529G>A (p.E177K) - RNF168_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558+20G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.635A>C r.(?) p.(Glu212Ala) Unknown - likely benign g.196210686T>G - RNF168(NM_152617.3):c.635A>C (p.E212A) - RNF168_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681-19T>G r.(=) p.(=) Unknown - likely benign g.196202202A>C - RNF168(NM_152617.3):c.681-19T>G - RNF168_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704T>C r.(?) p.(Phe235Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.732A>G r.(?) p.(Val244=) Unknown - likely benign g.196202132T>C - RNF168(NM_152617.3):c.732A>G (p.V244=) - RNF168_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864A>G r.(?) p.(Gln288=) Unknown - likely benign g.196199542T>C - RNF168(NM_152617.3):c.864A>G (p.Q288=) - RNF168_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864A>G r.(?) p.(Gln288=) Unknown - likely benign g.196199542T>C - RNF168(NM_152617.3):c.864A>G (p.Q288=) - RNF168_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918C>T r.(?) p.(Ala306=) Unknown - likely benign g.196199488G>A - RNF168(NM_152617.3):c.918C>T (p.A306=) - RNF168_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019C>T r.(?) p.(Ser340Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1030G>A r.(?) p.(Ala344Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058G>T r.(?) p.(Ser353Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1077_1078del r.(?) p.(Val361Aspfs*10) Unknown - likely pathogenic g.196199328_196199329del - RNF168(NM_152617.3):c.1077_1078delAG (p.V361Dfs*10), RNF168(NM_152617.4):c.1077_1078del (p.(Val361Aspfs*10)) - RNF168_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1077_1078del r.(?) p.(Val361Aspfs*10) Unknown - likely pathogenic g.196199328_196199329del - RNF168(NM_152617.3):c.1077_1078delAG (p.V361Dfs*10), RNF168(NM_152617.4):c.1077_1078del (p.(Val361Aspfs*10)) - RNF168_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Glu376=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1202C>A r.(?) p.(Pro401Gln) Unknown - benign g.196199204G>T g.196472333G>T RNF168(NM_152617.4):c.1202C>A (p.P401Q) - RNF168_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1237G>A r.(?) p.(Glu413Lys) Unknown - likely benign g.196199169C>T - RNF168(NM_152617.3):c.1237G>A (p.E413K) - RNF168_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275T>G r.(?) p.(Phe425Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>T r.(?) p.(Thr426=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>T r.(?) p.(Thr426=) Unknown - likely benign g.196199128G>A - RNF168(NM_152617.3):c.1278C>T (p.T426=) - RNF168_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1409C>T r.(?) p.(Ser470Phe) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1428A>T r.(?) p.(Leu476Phe) Unknown - VUS g.196198978T>A - - - RNF168_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1428A>T r.(?) p.(Leu476Phe) Unknown - VUS g.196198978T>A - - - RNF168_000020 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1550A>G r.(?) p.(Lys517Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1680A>G r.(?) p.(Lys560=) Unknown - likely benign g.196198726T>C - RNF168(NM_152617.3):c.1680A>G (p.K560=) - RNF168_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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