Details for AMHR2:c.1330_1356del, p.Gly445_Leu453del

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
5382397053430186
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AMHR2
REFERENCE ALLELE ACTGGGCAATACCCCTACCTCTGATGAG
ALTERNATE ALLELE A
TRANSCRIPT NM_020547
CDNA CHANGE c.1330_1356del
PROTEIN CHANGE p.Gly445_Leu453del
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.093746Disease causing
DBSNP ID NA
1 combination linked to AMHR2:c.1330_1356del, p.Gly445_Leu453del OLI1801
1 disease linked to AMHR2:c.1330_1356del, p.Gly445_Leu453del Congenital hypogonadotropic hypogonadism
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