Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFD1 p.Arg653Gln (p.R653Q)
(
ENST00000557539.2,
ENST00000697174.1,
ENST00000554768.6,
ENST00000697173.1,
ENST00000545908.6,
ENST00000557370.3,
ENST00000652337.1,
ENST00000697168.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
BHMT p.Arg239Gln (p.R239Q) ( ENST00000274353.10, ENST00000524080.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
TCN2 p.Arg259His (p.R259H) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
TCN2 p.Arg259Pro (p.R259P) ( ENST00000215838.8, ENST00000405742.7, ENST00000407817.3, ENST00000450638.5, ENST00000698263.1, ENST00000698265.1, ENST00000698266.1, ENST00000698268.1, ENST00000698270.1, ENST00000698271.1, ENST00000698272.1, ENST00000698273.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
BHMT p.Arg239Gln (p.R239Q) ( ENST00000274353.10, ENST00000524080.1 ) - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160).
- Pubmed
- 22183302
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2012
Drugs