The COL6A1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol COL6A1
Gene name collagen, type VI, alpha 1
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference LRG_475
Transcript reference NM_001848.2
Exon/intron information NM_001848.2 exon/intron table
Associated with diseases BTHLM, BTHLM-1, UCMD-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 968
Unique public DNA variants reported 411
Individuals with public variants 822
Hidden variants 41
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:The database was initiated with the help of Anne Lampe, based on the review article Lampe AK, Bushby KMD (2005). Collagen VI related muscle disorders. J. Med. Genet. 42: 673-685.
Date created February 28, 2005
Date last updated September 29, 2021
Version COL6A1:210929

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001848.2.
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
Homepage URL
HGNC 2211
Entrez Gene 1291
PubMed articles COL6A1
OMIM - Gene 120220
OMIM - Diseases BTHLM-1 (myopathy, Bethlem, type 1 (BTHLM-1))
UCMD-1 (dystrophy, muscular, congenital, Ullrich, type 1 (UCMD-1))
GeneCards COL6A1
GeneTests COL6A1
Orphanet COL6A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00005471 21 collagen, type VI, alpha 1 NM_001848.2 NP_001839.2 968

Copyright & disclaimer
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