Details for SERPINA1:c.863A>T, p.Glu288Val

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
9484726294380925
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SERPINA1
REFERENCE ALLELE T
ALTERNATE ALLELE A
TRANSCRIPT NM_001127701.1
CDNA CHANGE c.863A>T
PROTEIN CHANGE p.Glu288Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01960.00080.05760.00.05670.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.02330.0079360.030120.013695.437e-050.0084530.036530.034210.0

ESP
AAEA
0.0095320.0414
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.553744Polymorphism
DBSNP ID rs17580
2 combinations linked to SERPINA1:c.863A>T, p.Glu288Val OLI801; OLI803
1 disease linked to SERPINA1:c.863A>T, p.Glu288Val Cystic fibrosis
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