Annotation Detail
Information
- Associated Genes
- NDUFB2
- Associated Variants
-
NDUFB2 MUTATION
NDUFB2 MUTATION
COL5A1 c.*83C>T ( ENST00000371817.8, ENST00000371820.4 )
COL5A1 c.*190G>A ( ENST00000371817.8, ENST00000371820.4 )
COL5A1 c.*267C>T ( ENST00000371817.8, ENST00000371820.4 )
COL5A1 c.*83C>T ( ENST00000371817.8, ENST00000371820.4 )
COL5A1 c.*190G>A ( ENST00000371817.8, ENST00000371820.4 )
COL5A1 c.*267C>T ( ENST00000371817.8, ENST00000371820.4 ) - Associated Disease
- carpal tunnel syndrome
- Source Database
- DisGeNET
- Description
- One hundred and three self-reported coloured participants, with a history of carpal tunnel release surgery (CTS) and 150 matched control (CON) participants without any reported history of CTS symptoms were genotyped for the COL5A1 rs13946 (C/T), rs14774622 (C/T)/rs55748801 (G/A) (W/M where W = CG), rs12722 (C/T) and rs71746744 (-/AGGG) variants.
- Pubmed
- 24966028
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs