Full data view for gene ADA

Information The variants shown are described using the NM_000022.2 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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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.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - autism, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.239A>G - r.(?) p.(Lys80Arg) Unknown g.43255220T>C g.44626579T>C - - ADA_000030 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
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