All transcript variants in gene PIGY

Information The variants shown are described using the NM_001042616.2 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+/. 1 c.-540G>A - r.-540g>a p.= g.89444948C>T g.88523797C>T - - PIGY_000003 exome sequencing, 7 Mb homozygous region; reduced mRNA expression (0.10) PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. 1 c.-540G>A - r.-540g>a p.= g.89444948C>T g.88523797C>T - - PIGY_000003 exome sequencing, 7 Mb homozygous region; reduced mRNA expression (0.05) PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - - Germline yes - - 0 - Johan den Dunnen
-?/. 1 c.-222C>T - r.-222c>u p.= g.89443162G>A g.88522011G>A - - PIGY_000004 reduced mRNA expression (0.05) PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - rs3177413 Germline - - - 0 - Johan den Dunnen
-?/. 1 c.-222C>T - r.-222c>u p.= g.89443162G>A g.88522011G>A - - PIGY_000004 reduced mRNA expression (0.10) PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - rs3177413 Germline - - - 0 - Johan den Dunnen
+/. 2 c.137T>C - r.(?) p.(Leu46Pro) g.89442804A>G g.88521653A>G - - PIGY_000002 variant in 10 Mb homozygous segment, parents may be distantly related PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.137T>C - r.(?) p.(Leu46Pro) g.89442804A>G g.88521653A>G - - PIGY_000002 variant in 10 Mb homozygous segment, parents may be distantly related PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. 2 c.137T>C - - p.Leu46Pro g.89442804A>G g.88521653A>G - - PIGY_000002 expression cloning (human cells) shows reduced PIGY protein stability, yielding lower protein levels and reduced capacity to synthesize GPI anchors for correct protein targeting to the cell surface PubMed: Ilkovski 2015, Journal: Ilkovski 2015 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.137T>C - r.(?) p.(Leu46Pro) g.89442804A>G g.88521653A>G - - PIGY_000001 - PubMed: O'Grady 2016 - - Germline yes - - 0 - Sandra Cooper
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