Details for GLIS3:p.Ala753Val

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
38283423828342
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE GLIS3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Ala753Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00120.00.00.0060.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00031896.152e-052.893e-050.00.0042450.00.00.00.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign1.490147Polymorphism
DBSNP ID rs140101069
1 combination linked to GLIS3:p.Ala753Val OLI472
1 disease linked to GLIS3:p.Ala753Val Congenital hypothyroidism
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