All variants in the GP1BB gene

Information The variants shown are described using the NM_000407.4 transcript reference sequence.

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Effect     

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.418_419dup r.(?) p.(Cys141Leufs*53) - pathogenic (recessive) g.19711784_19711785dup g.19724261_19724262dup - - GP1BB_000011 - PubMed: Savoia 2014 - - Germline - - - 0 - Anna Savoia
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