Details for FRAS1:c.4367T>C, p.Ile1456Thr

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
7933418178413027
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed_and_verified
GENE FRAS1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_025074.6
CDNA CHANGE c.4367T>C
PROTEIN CHANGE p.Ile1456Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00290.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.439e-050.00.00011860.00.00.01.787e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.104797None
DBSNP ID rs560902495
1 combination linked to FRAS1:c.4367T>C, p.Ile1456Thr OLI602
1 disease linked to FRAS1:c.4367T>C, p.Ile1456Thr Disorder of sex development
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