The SERPINA7 gene homepage

General information
Gene symbol SERPINA7
Gene name serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
Chromosome X
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_021252.1
Transcript reference NM_000354.5
Associated with diseases TBGQTL
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 19
Individuals with public variants 31
Hidden variants 3
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated April 16, 2023
Version SERPINA7:230416

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11583
Entrez Gene 6906
PubMed articles SERPINA7
OMIM - Gene 314200
OMIM - Diseases TBGQTL ([Thyroxine-binding globulin QTL])
HGMD SERPINA7
GeneCards SERPINA7
GeneTests SERPINA7
Orphanet SERPINA7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001068 X serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 NM_000354.5 NP_000345.2 28


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