Unique variants in the PRPS2 gene

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

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/., -?/. 2 1 c.45G>A r.(?) p.(=), p.(Leu15=) - benign, likely benign g.12809661G>A g.12791542G>A L15L, PRPS2(NM_001039091.2):c.45G>A (p.L15=) - PRPS2_000021 recurrent, found 39 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 39/208 cases - - - Lucy Raymond, VKGL-NL_Groningen
-?/. 1 - c.255A>G r.(?) p.(Val85=) - likely benign g.12817458A>G - PRPS2(NM_001039091.2):c.255A>G (p.V85=) - PRPS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.348G>C r.(?) p.(Leu116=) - likely benign g.12827394G>C - PRPS2(NM_001039091.2):c.357G>C (p.L119=) - PRPS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.406-52G>C r.(=) p.(=) - VUS g.12828089G>C g.12809970G>C - - PRPS2_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.447C>G r.(?) p.(Pro149=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.531-68C>T r.(=) p.(=) - VUS g.12837558C>T g.12819439C>T - - PRPS2_000014 - - - - Germline - - - - - Yu Sun
?/. 1 - c.596C>T r.(?) p.(Ala199Val) - VUS g.12837691C>T - PRPS2(NM_001039091.2):c.605C>T (p.A202V) - PRPS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.704+153C>T r.(=) p.(=) - VUS g.12837952C>T g.12819833C>T - - PRPS2_000001 - - - - Germline - - - - - Yu Sun
-/. 1 - c.864+12A>G r.(=) p.(=) - benign g.12838934A>G g.12820815A>G PRPS2(NM_001039091.2):c.873+12A>G - PRPS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.*533_*536dup r.(=) p.(=) - VUS g.12841448_12841451dup g.12823329_12823332dup - - PRPS2_000005, PRPS2_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*534_*536dup r.(=) p.(=) - VUS g.12841449_12841451dup g.12823330_12823332dup - - PRPS2_000007, PRPS2_000019 - - - - Germline - - - - - Yu Sun
?/. 3 - c.*535_*536dup r.(=) p.(=) - VUS g.12841450_12841451dup g.12823331_12823332dup - - PRPS2_000006, PRPS2_000018 - - - - Germline - - - - - Yu Sun
?/. 1 - c.*536dup r.(=) p.(=) - VUS g.12841451dup g.12823332dup - - PRPS2_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*919A>G r.(=) p.(=) - VUS g.12841834A>G g.12823715A>G - - PRPS2_000008 - - - - Germline - - - - - Yu Sun
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