Unique variants in the PABPC5 gene

Information The variants shown are described using the NM_080832.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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 - c.-144+181G>C r.(=) p.(=) - VUS g.90690074G>C g.91435075G>C - - PABPC5_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.10G>A r.(?) p.(Gly4Arg) - likely benign g.90690586G>A g.91435587G>A PABPC5(NM_080832.2):c.10G>A (p.G4R) - PABPC5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.151C>G r.(?) p.(Arg51Gly) - VUS g.90690727C>G g.91435728C>G - - PABPC5_000002 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.688G>A r.(?) p.(Val230Ile) - likely benign g.90691264G>A - PABPC5(NM_080832.2):c.688G>A (p.V230I) - PABPC5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.740A>C r.(?) p.(Glu247Ala) - likely benign g.90691316A>C g.91436317A>C PABPC5(NM_080832.2):c.740A>C (p.(Glu247Ala)) - PABPC5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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