Details for LHX3:c.221G>A, p.Cys74Tyr

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
139092473136200627
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LHX3
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_014564
CDNA CHANGE c.221G>A
PROTEIN CHANGE p.Cys74Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.060922Disease causing
DBSNP ID NA
1 combination linked to LHX3:c.221G>A, p.Cys74Tyr OLI1572
1 disease linked to LHX3:c.221G>A, p.Cys74Tyr Syndrome with 46,XY disorder of sex development

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