Details for PAX3:c.382A>G, p.Met128Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
223160316222295597
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PAX3
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_181457.3
CDNA CHANGE c.382A>G
PROTEIN CHANGE p.Met128Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.772e-056.152e-050.00.00.00.09.67e-050.00.0

ESP
AAEA
0.0002270.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.159067Disease causing
DBSNP ID rs140921855
1 combination linked to PAX3:c.382A>G, p.Met128Val OLI719
1 disease linked to PAX3:c.382A>G, p.Met128Val Isolated anencephaly
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