Full data view for gene A1BG

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

16 entries on 1 page. Showing entries 1 - 16.
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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.-3913C>G likely benign r.(?) p.(=) Unknown g.58868716G>C - ZNF497(NM_001207009.1):c.286C>G (p.(Arg96Gly)) - ZNF497_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3486G>C likely benign r.(?) p.(=) Unknown g.58868289C>G - ZNF497(NM_001207009.1):c.713G>C (p.(Arg238Pro)) - ZNF497_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1120T>C likely benign r.(?) p.(Cys374Arg) Unknown g.58861808A>G - A1BG(NM_130786.3):c.1120T>C (p.(Cys374Arg)) - ZNF497_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1262T>C VUS r.(?) p.(Leu421Pro) Unknown g.58858937A>G - - - A1BG_000007 - Cox, submitted 2019 - - Germline - - - 0 - DNA SEQ-NG-I - - CLP - - - - - United States - - 0 - - 3 Timothy Cox
?/. - 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 - - - - - - - - - - - - - - - - - - -
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