Details for DUSP6:c.545C>T, p.Ser182Phe

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
8974465889350881
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE DUSP6
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_001946.3
CDNA CHANGE c.545C>T
PROTEIN CHANGE p.Ser182Phe
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0006050.00012315.783e-050.00079410.00.00027730.0011630.00016313.266e-05

ESP
AAEA
0.00.001512
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.235823Disease causing
DBSNP ID rs139318648
1 combination linked to DUSP6:c.545C>T, p.Ser182Phe OLI368
1 disease linked to DUSP6:c.545C>T, p.Ser182Phe Kallmann syndrome
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