Details for TRAPPC9:c.3121G>C, p.Asp1041His

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
140744380139732137
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE TRAPPC9
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_031466.7
CDNA CHANGE c.3121G>C
PROTEIN CHANGE p.Asp1041His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.727348Polymorphism
DBSNP ID rs754172005
1 combination linked to TRAPPC9:c.3121G>C, p.Asp1041His OLI848
1 disease linked to TRAPPC9:c.3121G>C, p.Asp1041His Normosmic congenital hypogonadotropic hypogonadism
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