Details for CHD7:c.4008C>T, p.Ile1336Ile

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6174939460836835
VARIANT EFFECT silent
ANNOTATION FLAG automatically_attributed_and_verified
GENE CHD7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_017780.3
CDNA CHANGE c.4008C>T
PROTEIN CHANGE p.Ile1336Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
5.218e-050.00.00.00.00.00.00011510.00.0

ESP
AAEA
0.00.0001204
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.075881Polymorphism
DBSNP ID rs370471177
1 combination linked to CHD7:c.4008C>T, p.Ile1336Ile OLI339
1 disease linked to CHD7:c.4008C>T, p.Ile1336Ile Isolated Klippel-Feil syndrome
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