The ITGA7 gene homepage

General information
Gene symbol ITGA7
Gene name integrin, alpha 7
Chromosome 12
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_012343.1
Transcript reference NM_001144996.1, NM_001144997.1, NM_002206.2, NR_037657.1, XM_005268839.1, XM_005268840.1, XM_005268841.1, XM_005268842.1, XM_005268843.1, XM_005268844.1, XM_005268845.1, XM_005268846.1, XM_005268847.1, XM_005268848.1, XM_005268849.1, XM_005268850.1
Associated with diseases dystrophy, muscular, congenital, due to integrin alpha-7 deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 285
Unique public DNA variants reported 28
Individuals with public variants 35
Hidden variants 243
Date created October 29, 2013
Date last updated September 28, 2016
Version ITGA7:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:6143
Entrez Gene 3679
PubMed articles ITGA7
OMIM - Gene 600536
OMIM - Diseases dystrophy, muscular, congenital, due to integrin alpha-7 deficiency
HGMD ITGA7
GeneCards ITGA7
GeneTests ITGA7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003921 12 transcript variant 2 NM_002206.2 NP_002197.2 282
00017588 12 Manually created transcript. NM_001144996.1 - 253
00017589 12 Manually created transcript. NM_001144997.1 - 222
00031756 12 Manually created transcript (removed from reference sequence) NR_037657.1 - -
00035274 12 transcript variant X2 XM_005268840.1 XP_005268897.1 -
00035275 12 transcript variant X6 XM_005268844.1 XP_005268901.1 -
00035276 12 transcript variant X1 XM_005268839.1 XP_005268896.1 -
00035277 12 transcript variant X5 XM_005268843.1 XP_005268900.1 -
00035278 12 transcript variant X7 XM_005268845.1 XP_005268902.1 -
00035279 12 transcript variant X12 XM_005268850.1 XP_005268907.1 -
00035280 12 transcript variant X9 XM_005268847.1 XP_005268904.1 -
00035281 12 transcript variant X4 XM_005268842.1 XP_005268899.1 -
00035282 12 transcript variant X8 XM_005268846.1 XP_005268903.1 -
00035283 12 transcript variant X11 XM_005268849.1 XP_005268906.1 -
00035284 12 transcript variant X10 XM_005268848.1 XP_005268905.1 -
00035285 12 transcript variant X3 XM_005268841.1 XP_005268898.1 -


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