Details for SOS1:c.244A>G, p.Ile82Val

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
3928591539058774
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SOS1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_005633
CDNA CHANGE c.244A>G
PROTEIN CHANGE p.Ile82Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
4.391e-050.00012375.814e-050.00.00.03.527e-050.00032743.292e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.619453Disease causing
DBSNP ID NA
1 combination linked to SOS1:c.244A>G, p.Ile82Val OLI1518
1 disease linked to SOS1:c.244A>G, p.Ile82Val 46,XY disorder of sex development
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