Details for CHD7:c.2049_2050insCAAAAG, p.Lys683_Lys684insGlnLys

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6169394160781382
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE A
ALTERNATE ALLELE AGCAAAA
TRANSCRIPT N.A.
CDNA CHANGE c.2049_2050insCAAAAG
PROTEIN CHANGE p.Lys683_Lys684insGlnLys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.080878Polymorphism
DBSNP ID NA
1 combination linked to CHD7:c.2049_2050insCAAAAG, p.Lys683_Lys684insGlnLys OLI961
1 disease linked to CHD7:c.2049_2050insCAAAAG, p.Lys683_Lys684insGlnLys Non-acquired combined pituitary hormone deficiency
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