Full data view for gene SERPINA1

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

9 entries on 1 page. Showing entries 1 - 9.
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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.1096G>A - r.(?) p.(Glu366Lys) Unknown g.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1096G>A - r.(?) p.(Glu366Lys) Unknown g.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1096G>A - r.(?) p.(Glu366Lys) Unknown g.94844947C>T g.94378610C>T - - SERPINA1_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/+ 7 c.1096G>A - r.(?) p.(Glu366Lys) Parent #1 g.94844947C>T g.94378610C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun - SERPINA1_000004 - PubMed: Weidinger 1985 - rs28929474 Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Weidinger 1985 - - - - - - 0 - - 1 George Patrinos
+/+ 7 c.1096G>A - r.(?) p.(Glu366Lys) Parent #1 g.94844947C>T g.94378610C>T g.11940G>A | g.9475T>C | V237A | E366K / Name: Z - SERPINA1_000004 - PubMed: 14985567 - rs28929474 Unknown - - - 0 - DNA ? - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
+/. - c.1096G>A pathogenic r.(?) p.(Glu366Lys) Unknown g.94844947C>T - SERPINA1(NM_001127701.1):c.1096G>A (p.E366K) - SERPINA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096G>A pathogenic r.(?) p.(Glu366Lys) Unknown g.94844947C>T - SERPINA1(NM_001127701.1):c.1096G>A (p.E366K) - SERPINA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096G>A pathogenic r.(?) p.(Glu366Lys) Unknown g.94844947C>T - SERPINA1(NM_001127701.1):c.1096G>A (p.E366K) - SERPINA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096G>A pathogenic r.(?) p.(Glu366Lys) Unknown g.94844947C>T - SERPINA1(NM_001127701.1):c.1096G>A (p.E366K) - SERPINA1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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