Full data view for gene BEX4

Information The variants shown are described using the NM_001080425.3 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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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.-89+185T>G r.(=) p.(=) Maternal (inferred) - VUS g.102470351T>G g.103215423T>G - - BEX4_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-88-71G>A r.(=) p.(=) Maternal (inferred) - VUS g.102470539G>A g.103215611G>A - - BEX4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-88-71G>A r.(=) p.(=) Maternal (inferred) - VUS g.102470539G>A g.103215611G>A - - BEX4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-6+122G>C r.(=) p.(=) Maternal (inferred) - VUS g.102470814G>C g.103215886G>C - - BEX4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-6+122G>C r.(=) p.(=) Maternal (inferred) - VUS g.102470814G>C g.103215886G>C - - BEX4_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1 c.15C>G r.(?) p.(?) Parent #1 - VUS g.102471096C>G - I5M - BEX4_000013 recurrent, found 7 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
?/. 1 c.22G>A r.(?) p.(Ala8Thr) Parent #1 - VUS g.102471103G>A g.103216175G>A E8K - BEX4_000014 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators 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
?/. 1 c.103+1G>A r.spl p.? Parent #1 - VUS g.102471185G>A - - - BEX4_000015 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. 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.145A>G r.(?) p.(Asn49Asp) Unknown - VUS g.102471226A>G g.103216298A>G BEX4(NM_001080425.3):c.145A>G (p.N49D, p.(Asn49Asp)) - BEX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.145A>G r.(?) p.(Asn49Asp) Unknown - likely benign g.102471226A>G - BEX4(NM_001080425.3):c.145A>G (p.N49D, p.(Asn49Asp)) - BEX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294G>A r.(?) p.(Gln98=) Unknown - likely benign g.102471375G>A - BEX4(NM_001127688.2):c.294G>A (p.Q98=) - BEX4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294_302del r.(?) p.(Gln98_Arg100del) Unknown - VUS g.102471375_102471383del g.103216447_103216455del BEX4(NM_001080425.3):c.291_299del (p.?) - BEX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*87G>T r.(=) p.(=) Maternal (inferred) - VUS g.102471531G>T g.103216603G>T - - BEX4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*87G>T r.(=) p.(=) Maternal (inferred) - VUS g.102471531G>T g.103216603G>T - - BEX4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 2 c.567C>T r.(?) p.(?) Parent #1 - VUS g.102471648C>T - C189C - BEX4_000016 recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
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