Full data view for gene PAGE1

Information The variants shown are described using the NM_003785.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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.87C>T r.(=) p.(=) Parent #1 - likely benign g.49458781G>A g.49694178G>A D29D - PAGE1_000009 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
?/. - c.160G>A r.(?) p.(Ala54Thr) Unknown - VUS g.49458708C>T g.49694105C>T PAGE1(NM_003785.3):c.160G>A (p.A54T) - PAGE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.166+74_166+77del r.(=) p.(=) Unknown - VUS g.49458665_49458668del g.49694062_49694065del - - PAGE1_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.166+76_166+77del r.(=) p.(=) Unknown - VUS g.49458667_49458668del g.49694064_49694065del - - PAGE1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.168G>A r.(?) p.(Gly56=) Unknown - likely benign g.49455976C>T g.49691373C>T PAGE1(NM_003785.3):c.168G>A (p.(=)) - PAGE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.168G>A r.(=) p.(=) Parent #1 - likely benign g.49455976C>T g.49691373C>T G56G - PAGE1_000006 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.199G>A r.(?) p.(Val67Ile) Unknown - likely benign g.49455945C>T g.49691342C>T PAGE1(NM_003785.3):c.199G>A (p.V67I) - PAGE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293-7_293-4dup r.? p.? Unknown - VUS g.49454176_49454179dup g.49689573_49689576dup - - PAGE1_000003 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.350G>A r.(?) p.(Arg117His) Unknown - VUS g.49454089C>T g.49689486C>T PAGE1(NM_003785.3):c.350G>A (p.(Arg117His)) - PAGE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.413A>G r.(?) p.(Glu138Gly) Unknown - likely benign g.49454026T>C g.49689423T>C PAGE1(NM_003785.3):c.413A>G (p.(Glu138Gly)) - PAGE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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