Full data view for gene CCDC151

Information The variants shown are described using the NM_145045.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-2956C>G r.(?) p.(=) Unknown - pathogenic g.11548793G>C g.11437972G>C PRKCSH(NM_001289104.2):c.292+1G>C, PRKCSH(NM_002743.3):c.292+1G>C - PRKCSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2956C>G r.(?) p.(=) Unknown - pathogenic g.11548793G>C - PRKCSH(NM_001289104.2):c.292+1G>C, PRKCSH(NM_002743.3):c.292+1G>C - PRKCSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2956C>G r.(?) p.(=) Unknown - pathogenic g.11548793G>C - PRKCSH(NM_001289104.2):c.292+1G>C, PRKCSH(NM_002743.3):c.292+1G>C - PRKCSH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2891G>C r.(?) p.(=) Unknown - VUS g.11548728C>G - PRKCSH(NM_001001329.1):c.228C>G (p.(His76Gln)) - CCDC151_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1494C>T r.(?) p.(=) Unknown - VUS g.11547331G>A - PRKCSH(NM_002743.2):c.196+5G>A (p.?) - CCDC151_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1481T>G r.(?) p.(=) Unknown - VUS g.11547318A>C - - - CCDC151_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-1184_-1177dup r.(?) p.(=) Unknown - pathogenic g.11547014_11547021dup - PRKCSH(NM_002743.3):c.79_80insGTGAACCA (p.N27Sfs*117) - CCDC151_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1115_-1113dup r.(?) p.(=) Unknown - likely benign g.11546962_11546964dup - PRKCSH(NM_002743.3):c.24_26dupGCT (p.L9dup) - CCDC151_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148C>T r.(?) p.(Pro50Ser) Unknown - likely benign g.11545690G>A - CCDC151(NM_145045.5):c.148C>T (p.(Pro50Ser)) - CCDC151_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.173T>C r.(?) p.(Phe58Ser) Unknown - likely benign g.11545665A>G g.11434844A>G CCDC151(NM_145045.4):c.173T>C (p.(Phe58Ser)) - CCDC151_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.229_233delinsCTCAGGTATATAACATAAACTCAGTTACATAA r.(?) p.(Lys77Leufs*6) Both (homozygous) - likely pathogenic g.11545605_11545609delinsTTATGTAACTGAGTTTATGTTATATACCTGAG g.11434784_11434788delinsTTATGTAACTGAGTTTATGTTATATACCTGAG - - CCDC151_000003 - - - - Germline - - - - - DNA SEQ-NG - - CILD 17GM01742 - - - - - Tunisian - - - - 1 Rahma MANI
-/. - c.254G>A r.(?) p.(Arg85Gln) Parent #1 - benign g.11541831C>T g.11431011C>T - - CCDC151_000011 40 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143192349 Germline - 40/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 40 Mohammed Faruq
-?/. - c.254G>A r.(?) p.(Arg85Gln) Unknown - likely benign g.11541831C>T - CCDC151(NM_001302453.1):c.92G>A (p.(Arg31Gln)), CCDC151(NM_145045.4):c.254G>A (p.R85Q) - CCDC151_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254G>A r.(?) p.(Arg85Gln) Unknown - likely benign g.11541831C>T - CCDC151(NM_001302453.1):c.92G>A (p.(Arg31Gln)), CCDC151(NM_145045.4):c.254G>A (p.R85Q) - CCDC151_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.424C>G r.(?) p.(Leu142Val) Unknown - likely benign g.11541539G>C g.11430719G>C CCDC151(NM_001302453.1):c.262C>G (p.(Leu88Val)) - CCDC151_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614C>T r.(?) p.(Thr205Ile) Unknown - benign g.11537603G>A g.11426783G>A CCDC151(NM_145045.5):c.614C>T (p.(Thr205Ile)) - CCDC151_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.614C>T r.(?) p.(Thr205Ile) Parent #1 - benign g.11537603G>A g.11426783G>A - - CCDC151_000008 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35061520 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.659C>T r.(?) p.(Ala220Val) Unknown - VUS g.11537558G>A - CCDC151(NM_145045.4):c.659C>T (p.A220V) - CCDC151_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.703_704insACCTA r.(?) p.(Ala235Aspfs*5) Unknown - pathogenic g.11537513_11537514insTAGGT - ODAD3(NM_145045.5):c.703_704insACCTA (p.A235Dfs*5) - CCDC151_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.775A>G r.(?) p.(Lys259Glu) Unknown - likely benign g.11537331T>C - CCDC151(NM_145045.5):c.775A>G (p.(Lys259Glu)) - CCDC151_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.907G>T r.(?) p.(Glu303*) Unknown - pathogenic g.11537020C>A - - - CCDC151_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.922G>A r.(?) p.(Ala308Thr) Unknown - likely benign g.11537005C>T - CCDC151(NM_145045.4):c.922G>A (p.(Ala308Thr)) - CCDC151_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.925G>T r.(?) p.(Glu309*) Both (homozygous) - pathogenic g.11537002C>A g.11426182C>A - - CCDC151_000001 not in 476 control chromosomes PubMed: Alsaadi and Erzurumluoglu 2014, Journal: Alsaadi and Erzurumluoglu 2014 - - Germline yes - - - - DNA PCRdig, SEQ-NG - - CILD - PubMed: Alsaadi and Erzurumluoglu 2014, Journal: Alsaadi and Erzurumluoglu 2014 - M yes Saudi Arabia - - - - - 1 A. Mesut Erzurumluoglu
-?/. - c.1032G>A r.(?) p.(Glu344=) Unknown - likely benign g.11534630C>T - CCDC151(NM_145045.4):c.1032G>A (p.E344=) - CCDC151_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213_1215del r.(?) p.(Glu405del) Unknown - VUS g.11533433_11533435del - ODAD3(NM_145045.5):c.1213_1215delGAG (p.E405del) - CCDC151_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1297G>T r.(?) p.(Glu433*) Unknown - likely pathogenic g.11533276C>A - - - CCDC151_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1501G>A r.(?) p.(Gly501Ser) Unknown - likely benign g.11532434C>T - CCDC151(NM_145045.5):c.1501G>A (p.(Gly501Ser)) - CCDC151_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1507G>T r.(?) p.(Val503Leu) Unknown - likely benign g.11532428C>A - CCDC151(NM_145045.4):c.1507G>T (p.(Val503Leu)) - CCDC151_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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