All variants in the GP1BB gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Sato 2014 - - Germline - - - 0 - Anna Savoia
+/. 2 c.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Kunishima 1997 - - Germline - - - 0 - Anna Savoia
+/. 2 c.338A>G r.(?) p.(Tyr113Cys) - pathogenic (recessive) g.19711704A>G g.19724181A>G - - GP1BB_000025 - PubMed: Kurokawa 2001 - - Germline - - - 0 - Anna Savoia
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