Full data view for gene CSTF2

Information The variants shown are described using the NM_001325.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.10T>G r.(?) p.(Leu4Val) Unknown - likely benign g.100075415T>G g.100820426T>G CSTF2(NM_001306206.1):c.10T>G (p.L4V) - CSTF2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58+278T>G r.(=) p.(=) Maternal (inferred) - VUS g.100075741T>G g.100820752T>G - - CSTF2_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.58+278T>G r.(=) p.(=) Maternal (inferred) - VUS g.100075741T>G g.100820752T>G - - CSTF2_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.58+284T>C r.(=) p.(=) Maternal (inferred) - VUS g.100075747T>C g.100820758T>C - - CSTF2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.58+284T>C r.(=) p.(=) Maternal (inferred) - VUS g.100075747T>C g.100820758T>C - - CSTF2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.138-47C>T r.(=) p.(=) Maternal (inferred) - VUS g.100077193C>T g.100822204C>T - - CSTF2_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.138-47C>T r.(=) p.(=) Maternal (inferred) - VUS g.100077193C>T g.100822204C>T - - CSTF2_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.308-252G>A r.(=) p.(=) Maternal (inferred) - VUS g.100078029G>A g.100823040G>A - - CSTF2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.308-252G>A r.(=) p.(=) Maternal (inferred) - VUS g.100078029G>A g.100823040G>A - - CSTF2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.608G>T r.(?) p.(Gly203Val) Unknown - VUS g.100079152G>T g.100824163G>T CSTF2(NM_001325.2):c.608G>T (p.(Gly203Val)) - CSTF2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683C>G r.(?) p.(Ala228Gly) Parent #1 - VUS g.100079227C>G g.100824238C>G - - CSTF2_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.826+168G>A r.(=) p.(=) Maternal (inferred) - VUS g.100081914G>A g.100826925G>A - - CSTF2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.826+168G>A r.(=) p.(=) Maternal (inferred) - VUS g.100081914G>A g.100826925G>A - - CSTF2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1032-166A>G r.(=) p.(=) Maternal (inferred) - VUS g.100087557A>G g.100832568A>G - - CSTF2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1032-166A>G r.(=) p.(=) Maternal (inferred) - VUS g.100087557A>G g.100832568A>G - - CSTF2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1323A>C r.(?) p.(Glu441Asp) Unknown - VUS g.100088284A>C - CSTF2(NM_001306206.1):c.1383A>C (p.E461D) - CSTF2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393A>G r.(?) p.(Met465Val) Unknown - VUS g.100088354A>G g.100833365A>G CSTF2(NM_001325.2):c.1393A>G (p.(Met465Val)) - CSTF2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1500+148G>A r.(=) p.(=) Maternal (inferred) - VUS g.100088609G>A g.100833620G>A - - CSTF2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1500+148G>A r.(=) p.(=) Maternal (inferred) - VUS g.100088609G>A g.100833620G>A - - CSTF2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1501-3T>C r.spl? p.? Unknown - likely benign g.100092325T>C g.100837336T>C CSTF2(NM_001306206.1):c.1561-3T>C - CSTF2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1563C>T r.(?) p.(Gly521=) Unknown - likely benign g.100092390C>T - CSTF2(NM_001306206.1):c.1623C>T (p.G541=) - CSTF2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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