Full data view for 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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.74T>C r.(?) p.(Met25Thr) Maternal (confirmed) - likely pathogenic g.38444814A>G g.37072514A>G - - PIGP_000001 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES - - PubMed: Johnstone 2017 - M no - French-Irish - 0 - - 2 Philippe Campeau
+?/. - c.74T>C r.(?) p.(Met25Thr) Maternal (confirmed) - likely pathogenic g.38444814A>G g.37072514A>G - - PIGP_000001 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES - - PubMed: Johnstone 2017 - F no - French-Irish - 0 - - 1 Philippe Campeau
+?/. - c.384del r.(?) p.(Glu129Argfs*7) Both (homozygous) - pathogenic g.38437976del g.37065676del 38437903 - PIGP_000003 - - - - Germline yes - - 0 - DNA SEQ-NG blood WES EIEE-55;GPIBD-14 - - - M yes Italy - 12y 0 - - 4 Annalisa Vetro
+?/. - c.456del r.(?) p.(Glu153Asnfs*34) Unknown - likely pathogenic g.38437905del g.37065605del - - PIGP_000002 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES - - PubMed: Johnstone 2017 - M no - French-Irish - 0 - - 2 Philippe Campeau
+?/. - c.456del r.(?) p.(Glu153Asnfs*34) Unknown - likely pathogenic g.38437905del g.37065605del - - PIGP_000002 - PubMed: Johnstone et al. 2017 - - Germline - - - 0 - DNA SEQ-NG Blood WES - - PubMed: Johnstone 2017 - F no - French-Irish - 0 - - 1 Philippe Campeau
?/. - c.456del r.(?) p.(Glu153AsnfsTer34) Unknown - VUS g.38437905del g.37065605del - - PIGP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend