Full data view for gene PRPS2

Information The variants shown are described using the NM_002765.4 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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     
-?/. 1 c.45G>A r.(?) p.(=) Parent #1 - likely benign g.12809661G>A g.12791542G>A L15L - PRPS2_000021 recurrent, found 39 times PubMed: Tarpey 2009 - - Germline - 39/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 39 Lucy Raymond
-/. - c.45G>A r.(?) p.(Leu15=) Unknown - benign g.12809661G>A g.12791542G>A PRPS2(NM_001039091.2):c.45G>A (p.L15=) - PRPS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255A>G r.(?) p.(Val85=) Unknown - likely benign g.12817458A>G - PRPS2(NM_001039091.2):c.255A>G (p.V85=) - PRPS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348G>C r.(?) p.(Leu116=) Unknown - likely benign g.12827394G>C - PRPS2(NM_001039091.2):c.357G>C (p.L119=) - PRPS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406-52G>C r.(=) p.(=) Maternal (inferred) - VUS g.12828089G>C g.12809970G>C - - PRPS2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.406-52G>C r.(=) p.(=) Maternal (inferred) - VUS g.12828089G>C g.12809970G>C - - PRPS2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.447C>G r.(?) p.(Pro149=) Unknown - likely benign g.12828182C>G g.12810063C>G PRPS2(NM_001039091.2):c.456C>G (p.P152=) - PRPS2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.531-68C>T r.(=) p.(=) Maternal (inferred) - VUS g.12837558C>T g.12819439C>T - - PRPS2_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.531-68C>T r.(=) p.(=) Maternal (inferred) - VUS g.12837558C>T g.12819439C>T - - PRPS2_000014 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.596C>T r.(?) p.(Ala199Val) Unknown - VUS g.12837691C>T - PRPS2(NM_001039091.2):c.605C>T (p.A202V) - PRPS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.704+153C>T r.(=) p.(=) Maternal (inferred) - VUS g.12837952C>T g.12819833C>T - - PRPS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.704+153C>T r.(=) p.(=) Maternal (inferred) - VUS g.12837952C>T g.12819833C>T - - PRPS2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.864+12A>G r.(=) p.(=) Unknown - benign g.12838934A>G g.12820815A>G PRPS2(NM_001039091.2):c.873+12A>G - PRPS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*533_*536dup r.(=) p.(=) Unknown - VUS g.12841448_12841451dup g.12823329_12823332dup - - PRPS2_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*533_*536dup r.(=) p.(=) Unknown - VUS g.12841448_12841451dup g.12823329_12823332dup - - PRPS2_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*534_*536dup r.(=) p.(=) Unknown - VUS g.12841449_12841451dup g.12823330_12823332dup - - PRPS2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*534_*536dup r.(=) p.(=) Unknown - VUS g.12841449_12841451dup g.12823330_12823332dup - - PRPS2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*535_*536dup r.(=) p.(=) Unknown - VUS g.12841450_12841451dup g.12823331_12823332dup - - PRPS2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*535_*536dup r.(=) p.(=) Unknown - VUS g.12841450_12841451dup g.12823331_12823332dup - - PRPS2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*535_*536dup r.(=) p.(=) Unknown - VUS g.12841450_12841451dup g.12823331_12823332dup - - PRPS2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*536dup r.(=) p.(=) Unknown - VUS g.12841451dup g.12823332dup - - PRPS2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*919A>G r.(=) p.(=) Maternal (inferred) - VUS g.12841834A>G g.12823715A>G - - PRPS2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*919A>G r.(=) p.(=) Maternal (inferred) - VUS g.12841834A>G g.12823715A>G - - PRPS2_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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