Details for ANG:c.122A>T, p.Lys41Ile

CHROMOSOME 14
GENOMIC COORDINATES
hg19hg38
2116184520693686
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE ANG
REFERENCE ALLELE A
ALTERNATE ALLELE T
TRANSCRIPT NM_001145.4
CDNA CHANGE c.122A>T
PROTEIN CHANGE p.Lys41Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0010.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0011850.00030762.891e-050.00.04.619e-050.0017670.00065150.002809

ESP
AAEA
0.00090790.002558
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign0.413155Polymorphism
DBSNP ID rs121909536
2 combinations linked to ANG:c.122A>T, p.Lys41Ile OLI274; OLI637
1 disease linked to ANG:c.122A>T, p.Lys41Ile Amyotrophic lateral sclerosis
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