Details for LHX4:c.359G>A, p.Cys120Tyr

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
180235637180266502
VARIANT EFFECT None
ANNOTATION FLAG None
GENE LHX4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.359G>A
PROTEIN CHANGE p.Cys120Tyr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.996098Disease causing
DBSNP ID NA
1 combination linked to LHX4:c.359G>A, p.Cys120Tyr OLI960
1 disease linked to LHX4:c.359G>A, p.Cys120Tyr Non-acquired combined pituitary hormone deficiency

Found any issues with the data on this page? Report this entry.