Annotation Detail
Information
- Associated Genes
- RYR1
- Associated Variants
-
RYR1 p.Glu1909GlyfsTer39 (p.E1909Gfs*39)
(
ENST00000355481.8,
ENST00000359596.8,
ENST00000689936.2,
ENST00000713952.1,
ENST00000713953.1 )
RYR1 p.Glu1909GlyfsTer39 (p.E1909Gfs*39) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg109Trp (p.R109W) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg2241Gly (p.R2241G) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg2241Ter (p.R2241*) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Met2423Lys (p.M2423K) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Met3081Thr (p.M3081T) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Ser3448Phe (p.S3448F) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.His3981Tyr (p.H3981Y) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Thr4709Met (p.T4709M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 c.14365-2A>T ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4842Met (p.V4842M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4849Ile (p.V4849I) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 c.14647-1449A>G ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg109Trp (p.R109W) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg2241Gly (p.R2241G) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Arg2241Ter (p.R2241*) ( ENST00000355481.8, ENST00000689936.2, ENST00000359596.8, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Met2423Lys (p.M2423K) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Met3081Thr (p.M3081T) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Ser3448Phe (p.S3448F) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.His3981Tyr (p.H3981Y) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Thr4709Met (p.T4709M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 c.14365-2A>T ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4842Met (p.V4842M) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Val4849Ile (p.V4849I) ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 c.14647-1449A>G ( ENST00000355481.8, ENST00000359596.8, ENST00000689936.2, ENST00000713952.1, ENST00000713953.1 )
RYR1 p.Ile582GlnfsTer29 (p.I582Qfs*29)
RYR1 p.Ile582GlnfsTer29 (p.I582Qfs*29) - Associated Disease
- MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.56027144187208
- Year of publication
- NA
Drugs