Details for CHD7:c.4012G>A, p.Gly1338Ser

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6174939860836839
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_017780.4
CDNA CHANGE c.4012G>A
PROTEIN CHANGE p.Gly1338Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.94284Disease causing
DBSNP ID NA
2 combinations linked to CHD7:c.4012G>A, p.Gly1338Ser OLI1261; OLI1276
1 disease linked to CHD7:c.4012G>A, p.Gly1338Ser Normosmic congenital hypogonadotropic hypogonadism
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