Full data view for gene HDX

Information The variants shown are described using the NM_144657.4 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.147+214C>T r.(=) p.(=) Maternal (inferred) - VUS g.83730045G>A g.84475037G>A - - HDX_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.147+214C>T r.(=) p.(=) Maternal (inferred) - VUS g.83730045G>A g.84475037G>A - - HDX_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.692A>G r.(?) p.(Tyr231Cys) Unknown - VUS g.83724039T>C - HDX(NM_001177479.2):c.692A>G (p.Y231C) - HDX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867A>G r.(?) p.(Ala289=) Unknown - likely benign g.83723864T>C - HDX(NM_001177479.2):c.867A>G (p.A289=) - HDX_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1190T>C r.(?) p.(Phe397Ser) Parent #1 - VUS g.83723541A>G g.84468533A>G F397S - HDX_000012 recurrent, found 31 times PubMed: Tarpey 2009 - - Germline - 31/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 31 Lucy Raymond
?/. - c.1453-181A>T r.(=) p.(=) Maternal (inferred) - VUS g.83599646T>A g.84344638T>A - - HDX_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1453-181A>T r.(=) p.(=) Maternal (inferred) - VUS g.83599646T>A g.84344638T>A - - HDX_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1453-118G>A r.(=) p.(=) Maternal (inferred) - VUS g.83599583C>T g.84344575C>T - - HDX_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1453-118G>A r.(=) p.(=) Maternal (inferred) - VUS g.83599583C>T g.84344575C>T - - HDX_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 7 c.1683G>A r.(?) p.(=) Parent #1 - VUS g.83591866C>T g.84336858C>T P561P - HDX_000011 recurrent, found 31 times PubMed: Tarpey 2009 - - Germline - 31/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 31 Lucy Raymond
?/. - c.1743A>C r.(?) p.(Lys581Asn) Unknown - VUS g.83588848T>G g.84333840T>G HDX(NM_001177478.1):c.1569A>C (p.(Lys523Asn)) - HDX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*782C>A r.(=) p.(=) Maternal (inferred) - VUS g.83576115G>T g.84321107G>T - - HDX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*782C>A r.(=) p.(=) Maternal (inferred) - VUS g.83576115G>T g.84321107G>T - - HDX_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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