All variants in the GP1BB gene

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

7 entries on 1 page. Showing entries 1 - 7.
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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_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19700000)_(19713000_?)del - - - GP1BB_000040 deletion SEPT5 and GP1BB genes PubMed: Bartsch 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_18895227)_(21431054_?)del - - - GP1BB_000040 - PubMed: Kunishima 2013 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_18895227)_(21461607_?)del - - - GP1BB_000040 - PubMed: Kunishima 2013 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Tang 2004 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Kenny 1999 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Hilmann 2002, PubMed: Nurden 2003 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_19711066)_(19712297_?)del - - - GP1BB_000040 - PubMed: Ludlow 1996 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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