Full data view for gene SERPINA1

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

29 entries on 1 page. Showing entries 1 - 29.
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     
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Clifton - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Castoria - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M5 - SERPINA1_000009 - PubMed: Weidinger 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Weidinger 1985 - - - - - - 0 - - 1 George Patrinos
+/+ 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M-Duarte - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1989 - - - - - - 0 - - 1 George Patrinos
+/+ 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: M-Cobalt - SERPINA1_000009 - PubMed: Cox 1989 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1989 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: L - SERPINA1_000009 - PubMed: Vandeville 1974 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Vandeville 1974 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Hampton - SERPINA1_000009 - PubMed: 311584 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 311584 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: B - SERPINA1_000009 - PubMed: Martin 1973 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Martin 1973 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Franklin - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: X-Alban - SERPINA1_000009 - PubMed: 69822187 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 69822187 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Saintlouis - SERPINA1_000009 - PubMed: Pierce 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Pierce 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Lemberg - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Budapest - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: Y-Toronto - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: R - SERPINA1_000009 - PubMed: Cox 1981 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Cox 1981 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: E-Tripoli - SERPINA1_000009 - PubMed: Sebetan 1992 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sebetan 1992 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: W-San - SERPINA1_000009 - PubMed: Dunn 1986 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Dunn 1986 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: S-Berber - SERPINA1_000009 - PubMed: Chaabani 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Chaabani 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Grossoeuvre - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Yerville - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Le Trait - SERPINA1_000009 - PubMed: Sesboüé 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Sesboüé 1984 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: L-Beijing - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Ying 1984 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: J-Houyao - SERPINA1_000009 - PubMed: Ying 1984 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Ying 1984 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: N-Adelaide - SERPINA1_000009 - PubMed: Mulley 1983 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Mulley 1983 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: W-Finneytown - SERPINA1_000009 - PubMed: Klasen 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Klasen 1985 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.= p.? Unknown g.? - g.? / Name: P-Oki - SERPINA1_000009 - PubMed: Yuasa 1985 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Yuasa 1985 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: E-Cincinnati - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - DNA PAGE, IEF - - AATD - PubMed: Hug 1980 - - - - - - 0 - - 1 George Patrinos
-/- 0 c.? - r.(?) p.? Unknown g.? - g.? / Name: Z-Pratt - SERPINA1_000009 - PubMed: Hug 1980 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Hug 1980 - - - - - - 0 - - 1 George Patrinos
?/? 0 c.? - r.(?) p.? Unknown g.? - g.? | 2 changes, D>K @ unknown position / Name: B-Ahlambra - SERPINA1_000009 - PubMed: Crystal - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Crystal - - - - - - 0 - - 1 George Patrinos
Legend