Details for ARG1:c.386T>C, p.Ile129Thr

CHROMOSOME 6
GENOMIC COORDINATES
hg19hg38
131902439131581299
VARIANT EFFECT None
ANNOTATION FLAG None
GENE ARG1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_000045.4
CDNA CHANGE c.386T>C
PROTEIN CHANGE p.Ile129Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.363423Disease causing
DBSNP ID NA
1 combination linked to ARG1:c.386T>C, p.Ile129Thr OLI1679
1 disease linked to ARG1:c.386T>C, p.Ile129Thr Non-Syndromic genetic keratoconus
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