Details for CHD7:c.7891C>T, p.Arg2631Ter

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6177481560862256
VARIANT EFFECT None
ANNOTATION FLAG None
GENE CHD7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.7891C>T
PROTEIN CHANGE p.Arg2631Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.713085Disease causing
DBSNP ID NA
1 combination linked to CHD7:c.7891C>T, p.Arg2631Ter OLI1653
1 disease linked to CHD7:c.7891C>T, p.Arg2631Ter Kallmann syndrome
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