All transcript variants in gene PIGP

Information The variants shown are described using the NM_153681.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.74T>C - r.(?) p.(Met25Thr) g.38444814A>G g.37072514A>G - - PIGP_000001 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.74T>C - r.(?) p.(Met25Thr) g.38444814A>G g.37072514A>G - - PIGP_000001 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.384del pathogenic r.(?) p.(Glu129Argfs*7) g.38437975del g.37065675del 38437903 - PIGP_000003 - - - - Germline yes - - 0 - Annalisa Vetro
+?/. - c.456del - r.(?) p.(Glu153Asnfs*34) g.38437903del g.37065603del - - PIGP_000002 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - Philippe Campeau
+?/. - c.456del - r.(?) p.(Glu153Asnfs*34) g.38437903del g.37065603del - - PIGP_000002 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - Philippe Campeau
?/. - c.456del VUS r.(?) p.(Glu153Asnfs*34) g.38437905del - PIGP(NM_153681.2):c.456del (p.Glu153fs) - PIGP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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