Details for TYRO3:c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC, p.Ala223HisfsTer21

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
4185646741564269
VARIANT EFFECT None
ANNOTATION FLAG None
GENE TYRO3
REFERENCE ALLELE A
ALTERNATE ALLELE ACACTGCCTGCAGCCCCCTTCAACATCACC
TRANSCRIPT N.A.
CDNA CHANGE c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC
PROTEIN CHANGE p.Ala223HisfsTer21
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.599671Disease causing
DBSNP ID NA
1 combination linked to TYRO3:c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC, p.Ala223HisfsTer21 OLI1747
1 disease linked to TYRO3:c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC, p.Ala223HisfsTer21 46,XY disorder of sex development
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