Unique variants in gene A1BG

Information The variants shown are described using the NM_130786.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. 6 - c.1480G>A - r.1490g>a, r.? p.(Glu494Lys), p.? g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1480+43T>C - - p.(=) g.58858676A>G g.58347310A>G - - A1BG_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1480+105del - - p.(=) g.58858614del g.58347248del - - A1BG_000004 - - - - Germline - - - - - Yu Sun
?/. 3 - c.1482del - r.1492del p.(Arg500fs) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - - - Johan den Dunnen
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