Full data view for gene SERPINA1

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

49 entries on 1 page. Showing entries 1 - 49.
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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.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, CF - PubMed: Bell 2011 - M - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Both (homozygous) g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG, SEQ - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.710T>C - r.(?) p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G - - SERPINA1_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/- 5 c.710T>C - r.= p.(Val237Ala) Unknown g.94847415A>G g.94381078A>G g.9475T>C | V237A / Name: M1 - SERPINA1_000002 - PubMed: 14985567 - rs6647 Unknown - - BstEII+ 0 - DNA, protein PCRdig, IEF - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.0 p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.7867delC | c.9475T>C | T184X | V237A / Name: QO-Granite falls - SERPINA1_000002 - PubMed: Nukiwa 1987 - - Unknown - - MaeII- 0 - DNA ? - - AATD - PubMed: Nukiwa 1987 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.= p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.7587G>A | g.9475T>C | E91G | V237A / Name: M-Mineral springs - SERPINA1_000002 - PubMed: Curiel 1990 - - Unknown - - AvaII+ 0 - DNA Southern - - AATD - PubMed: Curiel 1990 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.(?) p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.11940G>A | g.9475T>C | V237A | E366K / Name: Z - SERPINA1_000002 - PubMed: 14985567 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.(?) p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.11922G>A | g.9475T>C | V237A | A360T / Name: W-Bethesda - SERPINA1_000002 - PubMed: Holmes 1990 - - Unknown - - - 0 - DNA ? - - AATD - PubMed: Holmes 1990 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.= p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.12002insC | g.9475T>C | 386PinsC | 400X | V237A / Name: QO-Saarbruecken - SERPINA1_000002 - PubMed: Faber 1994 - - Unknown - - - 0 - DNA SEQ - - AATD - PubMed: Faber 1994 - - - - - - 0 - - 1 George Patrinos
+/+ 5 c.710T>C - r.(?) p.(Val237Ala) Parent #1 g.94847415A>G g.94381078A>G g.12022C>T | g.9475T>C | V237A | P393L / Name: M-Heerlem - SERPINA1_000002 - PubMed: 14985567 - - Unknown - - - 0 - DNA, protein IEF - - AATD - PubMed: 14985567 - - - - - - 0 - - 1 George Patrinos
-/. - c.710T>C benign r.(?) p.(Val237Ala) Unknown g.94847415A>G - SERPINA1(NM_000295.4):c.710T>C (p.V237A), SERPINA1(NM_001127701.1):c.710T>C (p.V237A) - SERPINA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.710T>C benign r.(?) p.(Val237Ala) Unknown g.94847415A>G - SERPINA1(NM_000295.4):c.710T>C (p.V237A), SERPINA1(NM_001127701.1):c.710T>C (p.V237A) - SERPINA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.710T>C likely benign r.(?) p.(Val237Ala) Unknown g.94847415A>G - SERPINA1(NM_000295.4):c.710T>C (p.V237A), SERPINA1(NM_001127701.1):c.710T>C (p.V237A) - SERPINA1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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