Details for ANG:c.208A>G, p.Ile70Val

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2116193120693772
VARIANT EFFECT unknown
ANNOTATION FLAG manually_corrected
GENE ANG
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001145.4
CDNA CHANGE c.208A>G
PROTEIN CHANGE p.Ile70Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00073160.00024610.00017350.00059520.00.0017550.00096690.00097720.0004573

ESP
AAEA
0.00045390.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.036482Polymorphism
DBSNP ID rs121909541
2 combinations linked to ANG:c.208A>G, p.Ile70Val OLI638; OLI666
1 disease linked to ANG:c.208A>G, p.Ile70Val Amyotrophic lateral sclerosis
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