Details for EDA:c.252delT, p.Gly85AlafsTer6

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
6883640369616559
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE EDA
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_001399.5
CDNA CHANGE c.252delT
PROTEIN CHANGE p.Gly85AlafsTer6
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.112216Disease causing
DBSNP ID rs1569272328
1 combination linked to EDA:c.252delT, p.Gly85AlafsTer6 OLI161
1 disease linked to EDA:c.252delT, p.Gly85AlafsTer6 Hypodontia
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