Details for LHB:c.252C>G, p.Phe84Leu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4951949949016242
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LHB
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000894.2
CDNA CHANGE c.252C>G
PROTEIN CHANGE p.Phe84Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
8.77e-050.00.00.00.0010350.08.821e-060.00016353.268e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging1.882814Polymorphism
DBSNP ID rs138049984
2 combinations linked to LHB:c.252C>G, p.Phe84Leu OLI893; OLI909
1 disease linked to LHB:c.252C>G, p.Phe84Leu Normosmic congenital hypogonadotropic hypogonadism
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