Full data view for gene CXorf56

Information The variants shown are described using the NM_022101.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2T>C - - p.(=) Maternal (inferred) g.118699320A>G g.119565357A>G - - CXorf56_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-2T>C - - p.(=) Maternal (inferred) g.118699320A>G g.119565357A>G - - CXorf56_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.124+177del - - p.(=) Maternal (inferred) g.118699018del g.119565055del - - CXorf56_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.124+177del - - p.(=) Maternal (inferred) g.118699018del g.119565055del - - CXorf56_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+?/. 2 c.159_160insTA - r.(?) p.(Asp54*) Maternal (confirmed) g.118694313_118694314insTA g.119560350_119560351insTA - - CXorf56_000024 - - - - Germline yes - - 0 - DNA SEQ-NG - - ID - - - M no Netherlands white - 0 - - 4 Annemieke Verkerk
?/. - c.159_160insTA VUS r.(?) p.(Asp54*) Unknown g.118694313_118694314insTA - CXorf56(NM_022101.3):c.159_160insTA (p.D54*) - CXorf56_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242+7100_242+7101delinsT likely benign r.(?) p.(=) Maternal (confirmed) g.118687130_118687131delinsA - 118687129_118687131delAGTinsAA - CXorf56_000027 118687130_118687131delinsA PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
-?/. - c.243-6397del likely benign r.(?) p.(=) Maternal (confirmed) g.118685864del - delT - CXorf56_000026 - PubMed: Kumar 2016, Journal: Kumar 2016 - - Germline - - - 0 - DNA SEQ-NG ThuongHa - MRX;IDX - PubMed: Kumar 2016, Journal: Kumar 2016 6-generation family with mutliple affected M no Australia - - 0 - - 10 Thuong Ha
?/. - c.284+268dup - - p.(=) Maternal (inferred) g.118679158dup g.119545195dup - - CXorf56_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.284+271_284+272insT - - p.(=) Maternal (inferred) g.118679154_118679155insA g.119545191_119545192insA - - CXorf56_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.284+271_284+272insT - - p.(=) Maternal (inferred) g.118679154_118679155insA g.119545191_119545192insA - - CXorf56_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.285-375C>T - - p.(=) Maternal (inferred) g.118678829G>A g.119544866G>A - - CXorf56_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.285-363G>A - - p.(=) Maternal (inferred) g.118678817C>T g.119544854C>T - - CXorf56_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.375C>T - - p.(=) Maternal (inferred) g.118678364G>A g.119544401G>A - - CXorf56_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.375C>T - - p.(=) Maternal (inferred) g.118678364G>A g.119544401G>A - - CXorf56_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.375C>T - r.(=) p.(=) Parent #1 g.118678364G>A - G125G - CXorf56_000005 recurrent, found 89 times PubMed: Tarpey 2009 - - Germline - 89/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 89 Lucy Raymond
?/. - c.513+218A>T - - p.(=) Maternal (inferred) g.118676250T>A g.119542287T>A - - CXorf56_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.513+218A>T - - p.(=) Maternal (inferred) g.118676250T>A g.119542287T>A - - CXorf56_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.513+253C>T - - p.(=) Maternal (inferred) g.118676215G>A g.119542252G>A - - CXorf56_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.513+253C>T - - p.(=) Maternal (inferred) g.118676215G>A g.119542252G>A - - CXorf56_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*177_*183del - - p.(=) Unknown g.118673507_118673513del g.119539544_119539550del - - CXorf56_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*177_*183del - - p.(=) Unknown g.118673507_118673513del g.119539544_119539550del - - CXorf56_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*177_*184del - - p.(=) Unknown g.118673506_118673513del g.119539543_119539550del - - CXorf56_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*177_*184del - - p.(=) Unknown g.118673506_118673513del g.119539543_119539550del - - CXorf56_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*190_*197del - - p.(=) Unknown g.118673493_118673500del g.119539530_119539537del - - CXorf56_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*191_*197del - - p.(=) Unknown g.118673493_118673499del g.119539530_119539536del - - CXorf56_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*191_*197del - - p.(=) Maternal (inferred) g.118673493_118673499del g.119539530_119539536del - - CXorf56_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1044C>T - - p.(=) Maternal (inferred) g.118672646G>A g.119538683G>A - - CXorf56_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1253C>T - - p.(=) Maternal (inferred) g.118672437G>A g.119538474G>A - - CXorf56_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1253C>T - - p.(=) Maternal (inferred) g.118672437G>A g.119538474G>A - - CXorf56_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1307del - - p.(=) Unknown g.118672383del g.119538420del - - CXorf56_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1564G>A - - p.(=) Maternal (inferred) g.118672126C>T g.119538163C>T - - CXorf56_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*1564G>A - - p.(=) Maternal (inferred) g.118672126C>T g.119538163C>T - - CXorf56_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
Legend