Full data view for gene SERPINA1

Information The variants shown are described using the NM_001127701.1 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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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.187C>T - r.(?) p.(Arg63Cys) Unknown g.94849388G>A g.94383051G>A - - SERPINA1_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/? 4 c.187C>T - r.(?) p.(Arg63Cys) Unknown g.94849388G>A g.94383051G>A g.7502C>T | R63C / Name: I - SERPINA1_000005 - PubMed: Graham 1989 - rs28931570 Unknown - - - 0 - DNA ? - - AATD - PubMed: Graham 1989 - - - - - - 0 - - 1 George Patrinos
+/. - c.187C>T pathogenic r.(?) p.(Arg63Cys) Unknown g.94849388G>A - SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T VUS r.(?) p.(Arg63Cys) Unknown g.94849388G>A - SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T VUS r.(?) p.(Arg63Cys) Unknown g.94849388G>A - SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T VUS r.(?) p.(Arg63Cys) Unknown g.94849388G>A - SERPINA1(NM_001127701.1):c.187C>T (p.R63C) - SERPINA1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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