Full data view for gene A1BG

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

12 entries on 1 page. Showing entries 1 - 12.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1480G>A - r.1490g>a p.(Glu494Lys) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A - r.? p.? Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A - r.1490g>a p.(Glu494Lys) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A - r.? p.? Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A - r.1490g>a p.(Glu494Lys) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A - r.? p.? Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1480+43T>C - - p.(=) Both (homozygous) g.58858676A>G g.58347310A>G - - A1BG_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1480+105del - - p.(=) Both (homozygous) g.58858614del g.58347248del - - A1BG_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1480+105del - - p.(=) Both (homozygous) g.58858614del g.58347248del - - A1BG_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1482del - r.1492del p.(Arg500fs) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1482del - r.1492del p.(Arg500fs) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1482del - r.1492del p.(Arg500fs) Both (homozygous) g.58858719C>T g.58347353C>T - - A1BG_000005 - - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
Legend