Details for GLI2:c.4558G>A, p.Asp1520Asn

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
121748048120990472
VARIANT EFFECT None
ANNOTATION FLAG None
GENE GLI2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.4558G>A
PROTEIN CHANGE p.Asp1520Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00460.00.00430.0010.00990.0092

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0093530.0025840.003180.0097245.437e-050.0024940.014560.0096120.01088

ESP
AAEA
0.0040850.01442
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.189697Polymorphism
DBSNP ID NA
1 combination linked to GLI2:c.4558G>A, p.Asp1520Asn OLI1159
1 disease linked to GLI2:c.4558G>A, p.Asp1520Asn Kallmann syndrome
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