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     
+/. _1 c.-160C>G r.0? p.0? - pathogenic (recessive) g.19710933C>G g.19723410C>G -133C>G - GP1BB_000041 variant in GATA binding site promoter; in vitro analysis shows 0.84 decreased activity PubMed: Ludlow 1996 - - Germline - - - 0 - Johan den Dunnen
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