Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
AMPD1 c.35-8_35-5delTCTT
(
ENST00000369538.4,
ENST00000520113.7 )
AMPD1 c.35-8_35-5delTCTT ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Arg425His (p.R425H) ( ENST00000520113.7, ENST00000369538.4 )
AMPD1 p.Arg388Trp (p.R388W) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Met310Ile (p.M310I) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Lys287Ile (p.K287I) ( ENST00000520113.7, ENST00000369538.4 )
AMPD1 p.Gln156His (p.Q156H) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Gln12Ter (p.Q12*) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Arg425His (p.R425H) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Arg388Trp (p.R388W) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Met310Ile (p.M310I) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Lys287Ile (p.K287I) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Gln156His (p.Q156H) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Gln12Ter (p.Q12*) ( ENST00000369538.4, ENST00000520113.7 ) - Associated Disease
- Muscle AMP deaminase deficiency
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.240542883744161
- Year of publication
- NA
Drugs