Full data view for gene ZNF673

Information The variants shown are described using the NM_017776.2 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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.-30-301A>T r.(=) p.(=) Maternal (inferred) - VUS g.46309565A>T g.46450130A>T - - ZNF673_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.15+230del r.(=) p.(=) Maternal (inferred) - VUS g.46310140del g.46450705del - - ZNF673_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.15+230del r.(=) p.(=) Maternal (inferred) - VUS g.46310140del g.46450705del - - ZNF673_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.16-7A>G r.(=) p.(=) Unknown - likely benign g.46322176A>G - KRBOX4(NM_001129899.1):c.16-7A>G - ZNF673_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192A>C r.(?) p.(Glu64Asp) Unknown - likely benign g.46322682A>C g.46463247A>C KRBOX4(NM_001129899.1):c.192A>C (p.E64D) - ZNF673_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213G>A r.(?) p.(Gly71=) Unknown - likely benign g.46322703G>A g.46463268G>A KRBOX4(NM_001129899.1):c.213G>A (p.G71=) - ZNF673_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239-1600A>G r.(=) p.(=) Unknown - likely benign g.46330585A>G g.46471150A>G KRBOX4(NM_001129899.1):c.262A>G (p.I88V) - ZNF673_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247C>G r.(?) p.(Gln83Glu) Unknown - likely benign g.46332193C>G - KRBOX4(NM_017776.2):c.247C>G (p.Q83E) - ZNF673_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.289A>C r.(?) K97Q Parent #1 - VUS g.46332235A>C g.46472800A>C K97Q - ZNF673_000006 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
-?/. - c.342C>A r.(?) p.(Ser114Arg) Unknown - likely benign g.46332288C>A g.46472853C>A KRBOX4(NM_001129898.1):c.357C>A (p.(Ser119Arg)) - ZNF673_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.355A>C r.(?) p.(Arg119=) Unknown - likely benign g.46332301A>C g.46472866A>C KRBOX4(NM_001129898.2):c.370A>C (p.R124=) - ZNF673_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.355A>C r.(?) R119R Parent #1 - likely benign g.46332301A>C g.46472866A>C R119R - ZNF673_000007 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
-?/. - c.389A>G r.(?) p.(Glu130Gly) Unknown - likely benign g.46332335A>G g.46472900A>G KRBOX4(NM_001129898.1):c.404A>G (p.(Glu135Gly)) - ZNF673_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.454T>C r.(?) p.(Phe152Leu) Unknown - likely benign g.46332400T>C - KRBOX4(NM_017776.2):c.454T>C (p.F152L) - ZNF673_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476G>A r.(?) p.(Trp159Ter) Unknown - VUS g.46332422G>A g.46472987G>A KRBOX4(NM_001129898.2):c.491G>A (p.W164*) - ZNF673_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.492del r.(?) p.(Glu165LysfsTer159) Unknown - VUS g.46332438del g.46473003del KRBOX4(NM_001129898.1):c.505delA (p.(Glu170LysfsTer159)) - ZNF673_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*659_*660dup r.(=) p.(=) Unknown - VUS g.46333106_46333107dup g.46473671_46473672dup - - ZNF673_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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