Details for DES:c.656C>T, p.Thr219Ile

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
220284989219420267
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DES
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001927.3
CDNA CHANGE c.656C>T
PROTEIN CHANGE p.Thr219Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00230.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00012330.0019070.00.00.00.00.00.00.0

ESP
AAEA
0.0013620.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.241011Disease causing
DBSNP ID rs144901249
1 combination linked to DES:c.656C>T, p.Thr219Ile OLI415
1 disease linked to DES:c.656C>T, p.Thr219Ile Limb-girdle muscular dystrophy
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