The COL12A1 gene homepage

General information
Gene symbol COL12A1
Gene name collagen, type XII, alpha 1
Chromosome 6
Chromosomal band q12-q13
Imprinted Unknown
Genomic reference NG_042181.1
Transcript reference NM_004370.5
Exon/intron information NM_004370.5 exon/intron table
Associated with diseases BTHLM, BTHLM-2, UCMD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 134
Unique public DNA variants reported 110
Individuals with public variants 72
Hidden variants 25
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated February 08, 2021
Version COL12A1:210208

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_004370.5.
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 https://www.LOVD.nl/COL12A1
HGNC 2188
Entrez Gene 1303
PubMed articles COL12A1
OMIM - Gene 120320
OMIM - Diseases BTHLM-2 (myopathy, Bethlem, type 2 (BTHLM-2))
UCMD-2 (dystrophy, muscular, congenital, Ullrich, type 2?, (UCMD-2))
HGMD COL12A1
GeneCards COL12A1
GeneTests COL12A1
Orphanet COL12A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005487 6 transcript variant long NM_004370.5 NP_004361.3 134


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