Details for AFG3L2:c.2114T>C, p.Ile705Thr

CHROMOSOME 18
GENOMIC COORDINATES
hg19hg38
1233740112337402
VARIANT EFFECT None
ANNOTATION FLAG None
GENE AFG3L2
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT N.A.
CDNA CHANGE c.2114T>C
PROTEIN CHANGE p.Ile705Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.993032Disease causing
DBSNP ID NA
1 combination linked to AFG3L2:c.2114T>C, p.Ile705Thr OLI1151
1 disease linked to AFG3L2:c.2114T>C, p.Ile705Thr Hereditary spastic paraplegia
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