Details for CHD7:c.7579A>C, p.Met2527Leu

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
6176941860856859
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE CHD7
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_017780.3
CDNA CHANGE c.7579A>C
PROTEIN CHANGE p.Met2527Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00140.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0020280.00073920.0013450.00045890.00.00026060.0036290.0016454.649e-05

ESP
AAEA
0.0011930.005084
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.331159Polymorphism
DBSNP ID rs192129249
1 combination linked to CHD7:c.7579A>C, p.Met2527Leu OLI575
1 disease linked to CHD7:c.7579A>C, p.Met2527Leu Disorder of sex development
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