Details for ANOS1:c.658C>T, p.Gln220Ter

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
85559038587862
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ANOS1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000216.4
CDNA CHANGE c.658C>T
PROTEIN CHANGE p.Gln220Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.898053Disease causing
DBSNP ID NA
1 combination linked to ANOS1:c.658C>T, p.Gln220Ter OLI1301
1 disease linked to ANOS1:c.658C>T, p.Gln220Ter Kallmann syndrome
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