Details for PAX3:c.944C>A, p.Thr315Lys

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
223085955222221236
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PAX3
REFERENCE ALLELE G
ALTERNATE ALLELE T
TRANSCRIPT NM_181457.3
CDNA CHANGE c.944C>A
PROTEIN CHANGE p.Thr315Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.01320.00230.01870.00.03680.0133

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.026770.0054750.013470.022250.00.038110.03840.02740.0194

ESP
AAEA
0.0081710.03791
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.580286Polymorphism
DBSNP ID rs2234675
1 combination linked to PAX3:c.944C>A, p.Thr315Lys OLI499
2 diseases linked to PAX3:c.944C>A, p.Thr315Lys Congenital diaphragmatic hernia; Marfan syndrome
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