Details for PLXNA3:c.787_796del, p.Val263fs

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
153689630154461290
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PLXNA3
REFERENCE ALLELE CGTGCGCATGT
ALTERNATE ALLELE C
TRANSCRIPT NM_017514
CDNA CHANGE c.787_796del
PROTEIN CHANGE p.Val263fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.174778None
DBSNP ID NA
1 combination linked to PLXNA3:c.787_796del, p.Val263fs OLI1516
1 disease linked to PLXNA3:c.787_796del, p.Val263fs 46,XY disorder of sex development
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