Full data view for gene ZBED1

Information The variants shown are described using the NM_004729.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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Consanguinity     

Country     

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Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 2 c.168C>T - r.(?) p.(=) Parent #1 g.2408593G>A - Y56Y - ZBED1_000008 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
-?/. 2 c.324C>T - r.(?) p.(=) Parent #1 g.2408437G>A - D108D - ZBED1_000007 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 16 Lucy Raymond
?/. 2 c.442A>G - r.(?) p.(Thr148Ala) Parent #1 g.2408319T>C - T148A - ZBED1_000006 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
?/. 2 c.595G>A - r.(?) p.(Asp199Asn) Parent #1 g.2408166C>T - D199N - ZBED1_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. 2 c.615T>C - r.(?) p.(=) Parent #1 g.2408146A>G - N205N - ZBED1_000004 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 17 Lucy Raymond
-?/. 2 c.1554C>T - r.(?) p.(=) Parent #1 g.2407207G>A - D518D - ZBED1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 2 c.1766A>G - r.(?) p.(Lys589Arg) Parent #1 g.2406995T>C - K589R - ZBED1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. 2 c.1872C>T - r.(?) p.(=) Parent #1 g.2406889G>A - S624S - ZBED1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
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