Details for ANOS1:c.1353del, p.Asp452IlefsTer30

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
85219938553952
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE ANOS1
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_000216.2
CDNA CHANGE c.1353del
PROTEIN CHANGE p.Asp452IlefsTer30
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.05841Disease causing
DBSNP ID NA
1 combination linked to ANOS1:c.1353del, p.Asp452IlefsTer30 OLI885
1 disease linked to ANOS1:c.1353del, p.Asp452IlefsTer30 Kallmann syndrome
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