Full data view for gene H2BFWT

Information The variants shown are described using the NM_001002916.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
Legend   How to query  

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.-9C>T r.(?) p.(=) Maternal (inferred) - VUS g.103268241G>A g.104013669G>A - - H2BFWT_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-9C>T r.(?) p.(=) Maternal (inferred) - VUS g.103268241G>A g.104013669G>A - - H2BFWT_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.13G>A r.(?) p.(Glu5Lys) Unknown - likely benign g.103268220C>T g.104013648C>T H2BFWT(NM_001002916.4):c.13G>A (p.E5K) - H2BFWT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>T r.(?) p.(Arg66Cys) Unknown - likely benign g.103268037G>A g.104013465G>A H2BFWT(NM_001002916.3):c.196C>T (p.(Arg66Cys)), H2BFWT(NM_001002916.4):c.196C>T (p.R66C) - H2BFWT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.196C>T r.(?) p.(Arg66Cys) Unknown - likely benign g.103268037G>A g.104013465G>A H2BFWT(NM_001002916.3):c.196C>T (p.(Arg66Cys)), H2BFWT(NM_001002916.4):c.196C>T (p.R66C) - H2BFWT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.259C>T r.(?) p.(Arg87Trp) Parent #1 - VUS g.103267974G>A g.104013402G>A R87W - H2BFWT_000008 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. - c.368G>A r.(?) p.(Arg123His) Maternal (inferred) - VUS g.103267865C>T g.104013293= - - H2BFWT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.368G>A r.(?) p.(Arg123His) Maternal (inferred) - VUS g.103267865C>T g.104013293= - - H2BFWT_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - likely benign g.103267857G>A g.104013285G>A H2BFWT(NM_001002916.3):c.376C>T (p.(Arg126Cys)) - H2BFWT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.510del r.(?) p.(Gln171Serfs*20) Parent #1 - VUS g.103267302del g.104012730del Q171Sfs*20 - H2BFWT_000007 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
Legend   How to query