Details for DES:c.638C>T, p.Ala213Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
220284876219420154
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DES
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001927.3
CDNA CHANGE c.638C>T
PROTEIN CHANGE p.Ala213Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00560.00.00860.00.01890.0031

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0092060.0033220.0057530.001295.437e-050.0073450.015210.0089580.003397

ESP
AAEA
0.0043120.01372
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.409679Polymorphism
DBSNP ID rs41272699
1 combination linked to DES:c.638C>T, p.Ala213Val OLI499
2 diseases linked to DES:c.638C>T, p.Ala213Val Congenital diaphragmatic hernia; Marfan syndrome
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