Unique variants in the H2BFWT gene

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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
?/. 2 - c.-9C>T r.(?) p.(=) - VUS g.103268241G>A g.104013669G>A - - H2BFWT_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.13G>A r.(?) p.(Glu5Lys) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.196C>T r.(?) p.(Arg66Cys) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 1 c.259C>T r.(?) p.(Arg87Trp) - VUS g.103267974G>A g.104013402G>A R87W - H2BFWT_000008 recurrent, found 6 times PubMed: Tarpey 2009 - - Germline - 6/208 cases - - - Lucy Raymond
?/. 2 - c.368G>A r.(?) p.(Arg123His) - VUS g.103267865C>T g.104013293= - - H2BFWT_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.376C>T r.(?) p.(Arg126Cys) - 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 - - - - - VKGL-NL_Leiden
?/. 1 2 c.510del r.(?) p.(Gln171Serfs*20) - VUS g.103267302del g.104012730del Q171Sfs*20 - H2BFWT_000007 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
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