Unique variants in the ZBED1 gene

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

11 entries on 1 page. Showing entries 1 - 11.
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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     
-?/. 1 2 c.168C>T r.(?) p.(=) - likely benign g.2408593G>A - Y56Y - ZBED1_000008 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
-?/. 1 2 c.324C>T r.(?) p.(=) - likely benign g.2408437G>A - D108D - ZBED1_000007 recurrent, found 16 times PubMed: Tarpey 2009 - - Germline - 16/208 cases - - - Lucy Raymond
?/. 1 2 c.442A>G r.(?) p.(Thr148Ala) - VUS g.2408319T>C - T148A - ZBED1_000006 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
?/. 1 2 c.595G>A r.(?) p.(Asp199Asn) - VUS g.2408166C>T - D199N - ZBED1_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 2 c.615T>C r.(?) p.(=) - likely benign g.2408146A>G - N205N - ZBED1_000004 recurrent, found 17 times PubMed: Tarpey 2009 - - Germline - 17/208 cases - - - Lucy Raymond
?/. 1 - c.917C>T r.(?) p.(Pro306Leu) - VUS g.2407844G>A - ZBED1(NM_001171135.1):c.917C>T (p.P306L) - DHRSX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.1554C>T r.(?) p.(=) - likely benign g.2407207G>A - D518D - ZBED1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 2 c.1766A>G r.(?) p.(Lys589Arg) - VUS g.2406995T>C - K589R - ZBED1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 2 c.1872C>T r.(?) p.(=) - likely benign g.2406889G>A - S624S - ZBED1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1951G>A r.(?) p.(Ala651Thr) - likely benign g.2406810C>T - ZBED1(NM_001171135.1):c.1951G>A (p.A651T) - DHRSX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*63412C>T r.(=) p.(=) - VUS g.2343264G>A - DHRSX(NM_145177.2):c.191C>T (p.A64V) - DHRSX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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