Full data view for gene CXorf36

Information The variants shown are described using the NM_024689.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.234-396C>G r.(=) p.(=) Maternal (inferred) - VUS g.45051656G>C g.45192411G>C - - CXorf36_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.234-396C>G r.(=) p.(=) Maternal (inferred) - VUS g.45051656G>C g.45192411G>C - - CXorf36_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.383G>A r.(?) p.(Arg128Lys) Maternal (inferred) - VUS g.45051111C>T g.45191866C>T - - CXorf36_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.383G>A r.(?) p.(Arg128Lys) Maternal (inferred) - VUS g.45051111C>T g.45191866C>T - - CXorf36_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 2 c.383G>A r.(?) p.(Arg128Lys) Parent #1 - VUS g.45051111C>T g.45191866C>T R128K - CXorf36_000002 recurrent, found 67 times PubMed: Tarpey 2009 - - Germline - 67/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 67 Lucy Raymond
?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - VUS g.45051057C>T g.45191812C>T CXorf36(NM_024689.2):c.437G>A (p.(Arg146Gln)) - CXorf36_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.498+23G>A r.(=) p.(=) Maternal (inferred) - VUS g.45050973C>T g.45191728C>T - - CXorf36_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.498+23G>A r.(=) p.(=) Maternal (inferred) - VUS g.45050973C>T g.45191728C>T - - CXorf36_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*10172G>A r.(=) p.(=) Unknown - VUS g.45013272C>T g.45154027C>T DIPK2B(NM_176819.4):c.844G>A (p.D282N) - CXorf36_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*12207G>A r.(=) p.(=) Unknown - VUS g.45011237C>T g.45151992C>T DIPK2B(NM_176819.4):c.962G>A (p.G321D) - CXorf36_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*12257C>G r.(=) p.(=) Unknown - likely benign g.45011187G>C g.45151942G>C CXorf36(NM_176819.3):c.1012C>G (p.(Leu338Val)) - CXorf36_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12405T>C r.(=) p.(=) Unknown - likely benign g.45011039A>G g.45151794A>G DIPK2B(NM_176819.4):c.1160T>C (p.V387A) - CXorf36_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*12544C>T r.(=) p.(=) Unknown - likely benign g.45010900G>A - DIPK2B(NM_176819.4):c.1299C>T (p.F433=) - CXorf36_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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