Details for LHB:c.364G>A, p.Gly122Ser

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
4951938749016130
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE LHB
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000894.2
CDNA CHANGE c.364G>A
PROTEIN CHANGE p.Gly122Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0010.00.00.0050.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00062860.00.00.00.0084830.00.00.00032610.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging1.725102Polymorphism
DBSNP ID rs5030774
4 combinations linked to LHB:c.364G>A, p.Gly122Ser OLI1105; OLI1110; OLI890; OLI914
2 diseases linked to LHB:c.364G>A, p.Gly122Ser Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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