The COL5A1 gene homepage
| General information |
| Gene symbol |
COL5A1 |
| Gene name |
collagen, type V, alpha 1 |
| Chromosome |
9 |
| Chromosomal band |
q34.2-q34.3 |
| Imprinted |
Unknown |
| Genomic reference |
NG_008030.1 |
| Transcript reference |
NM_000093.3, NM_001278074.1 |
| Associated with diseases |
EDS, EDS-2 |
| Citation reference(s) |
- |
| Curators (1) |
Johan T. den Dunnen |
| Total number of public variants reported |
718 |
| Unique public DNA variants reported |
78 |
| Individuals with public variants |
35 |
| Hidden variants |
165 |
| Date created |
November 30, -0001 |
| Date last updated |
September 28, 2016 |
| Version |
COL5A1:160928 |
Active transcripts
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