Full data view for gene SERPINA1

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

35 entries on 1 page. Showing entries 1 - 35.
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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.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Both (homozygous) g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Both (homozygous) g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.374G>A - r.(?) p.(Arg125His) Unknown g.94849201C>T g.94382864C>T - - SERPINA1_000003 - - - - Germline - - - - - DNA SEQ-NG - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+/+ 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.7689G>A | g.12047T>C | g.7538-7540TTCdel | F75del | M2 backround / Name: M-Malton - SERPINA1_000003 - PubMed: Curiel 1989 - rs709932 Unknown - - - 0 - DNA ASO - - AATD - PubMed: Curiel 1989 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Unknown g.94849201C>T g.94382864C>T g.7689G>A | R125H / Name: M4 - SERPINA1_000003 - PubMed: Constans 1980 - rs709932 Unknown - - - 0 - DNA ? - - AATD - PubMed: Constans 1980 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.9628A>T | g.7689G>A | g.12047A>C | R125H | E288V | E400D / Name: T - SERPINA1_000003 - PubMed: Faber 1994 - rs709932 Unknown - - - 0 - DNA ? - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.9664T>C | g.7689G>A | g.12047A>C | R125H | L300P | E400D, / Name: N-Nagato - SERPINA1_000003 - PubMed: 12935698 - rs709932 Unknown - - - 0 - DNA, protein SEQ, SSCA, IEF - - AATD - PubMed: 12935698 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.11047-11048CTdel | g.7689G>A | g.12047A>C | 342delCT | 359X | M2 backround / Name: QO-Hong kong - SERPINA1_000003 - PubMed: 14985567 - rs709932 Unknown - - - 0 - DNA ? - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.(?) p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.11940G>A | g.7689G>A | g.12047A>C | R125H | E366L | E400D / Name: Z-Augsburg/Tun - SERPINA1_000003 - PubMed: Weidinger 1985 - rs709932 Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: Weidinger 1985 - - - - - - 0 - - 1 George Patrinos
+/+ 4 c.374G>A - r.(?) p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.7689G>A | g.9604A>T | R125H | D280V / Name: P-Duarte - SERPINA1_000003 - PubMed: 8364590 - rs709932 Unknown - - RsaI+ 0 - DNA SEQ - - AATD - PubMed: 8364590 - - - - - - 0 - - 1 George Patrinos
-/- 4 c.374G>A - r.= p.(Arg125His) Parent #1 g.94849201C>T g.94382864C>T g.7689G>A | g.12047A>C | R125H | E400D / Name: M2 - SERPINA1_000003 - PubMed: Nukiwa - rs709932 Unknown - - RsaI+ 0 - DNA ASO, PCRdig - - AATD - PubMed: Nukiwa - - - - - - 0 - - 1 George Patrinos
-/. - c.374G>A benign r.(?) p.(Arg125His) Unknown g.94849201C>T - SERPINA1(NM_001127701.1):c.374G>A (p.R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374G>A benign r.(?) p.(Arg125His) Unknown g.94849201C>T - SERPINA1(NM_001127701.1):c.374G>A (p.R125H) - SERPINA1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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