Details for ANOS1:c.226delT, p.Trp76GlyfsTer21

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
86677688699727
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ANOS1
REFERENCE ALLELE CA
ALTERNATE ALLELE C
TRANSCRIPT NM_000216.4
CDNA CHANGE c.226delT
PROTEIN CHANGE p.Trp76GlyfsTer21
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID NA
1 combination linked to ANOS1:c.226delT, p.Trp76GlyfsTer21 OLI1287
1 disease linked to ANOS1:c.226delT, p.Trp76GlyfsTer21 Kallmann syndrome
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