Details for ANOS1:c.1871T>G, p.Leu624Arg

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
85024738534432
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ANOS1
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE c.1871T>G
PROTEIN CHANGE p.Leu624Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.853315Polymorphism
DBSNP ID NA
1 combination linked to ANOS1:c.1871T>G, p.Leu624Arg OLI1320
1 disease linked to ANOS1:c.1871T>G, p.Leu624Arg Kallmann syndrome
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