Full data view for gene SERPINA1

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/+ 4 c.115C>A - r.(?) p.(His39Asn) Unknown g.94849460G>T g.94383123G>T c.115C-A | H39N - SERPINA1_000045 - PubMed: Mahadeva 2000 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Mahadeva 2000 - - - - - - 0 - - 1 George Patrinos
-?/. - c.115C>A likely benign r.(?) p.(His39Asn) Unknown g.94849460G>T - SERPINA1(NM_001127701.1):c.115C>A (p.H39N) - SERPINA1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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