Details for CHD7:c.2189C>T, p.Thr730Ile

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6170763760795078
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CHD7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_017780.3
CDNA CHANGE c.2189C>T
PROTEIN CHANGE p.Thr730Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.824e-050.00.00.00.0008910.08.854e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.222159Disease causing
DBSNP ID rs552946889
2 combinations linked to CHD7:c.2189C>T, p.Thr730Ile OLI1112; OLI903
2 diseases linked to CHD7:c.2189C>T, p.Thr730Ile Normosmic congenital hypogonadotropic hypogonadism; CHARGE syndrome
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