All transcript variants in gene PIGS

Information The variants shown are described using the NM_033198.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/+ - c.101T>C - r.(?) p.(Leu34Pro) g.26898140A>G - - - PIGS_000002 - - - - Somatic - - - 0 - Philippe Campeau
+/+ - c.108G>A - r.(?) p.(Trp36*) g.26898133C>T - - - PIGS_000001 - - - - Somatic - - - 0 - Philippe Campeau
+/+ - c.468+1G>C - r.spl? p.? g.26890448C>G - - - PIGS_000005 - - - - Somatic - - - 0 - Philippe Campeau
+/+ - c.923A>G - r.(?) p.(Glu308Gly) g.26885505T>C - - - PIGS_000004 - - - - Somatic - - - 0 - Philippe Campeau
+/+ - c.1316_1352delinsGGTTGCT - r.(?) p.(Thr439_Lys451delinsArgLeuLeu) g.26881909_26881945delinsAGCAACC - - - PIGS_000003 - - - - Somatic - - - 0 - Philippe Campeau
-?/. - c.*1719G>A likely benign r.(=) p.(=) g.26879519C>T - UNC119(NM_054035.2):c.57G>A (p.G19=) - PIGS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.*1727G>T benign r.(=) p.(=) g.26879511C>A - UNC119(NM_054035.2):c.65G>T (p.G22V) - UNC119_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.*1831A>T pathogenic r.(=) p.(=) g.26879407T>A - UNC119(NM_005148.3):c.169A>T (p.(Lys57*)) - PIGS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1831A>T VUS r.(=) p.(=) g.26879407T>A - UNC119(NM_005148.3):c.169A>T (p.(Lys57*)) - PIGS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*5528C>T likely benign r.(=) p.(=) g.26875710G>A - UNC119(NM_054035.2):c.234C>T (p.S78=) - UNC119_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.*5561C>G benign r.(=) p.(=) g.26875677G>C - UNC119(NM_054035.2):c.267C>G (p.=) - UNC119_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*5561C>G likely benign r.(=) p.(=) g.26875677G>C - UNC119(NM_054035.2):c.267C>G (p.=) - UNC119_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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