Details for MERTK:c.225delA, p.Gly76GlufsTer3

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
112686859111929282
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE MERTK
REFERENCE ALLELE CA
ALTERNATE ALLELE A
TRANSCRIPT NM_006343.3
CDNA CHANGE c.225delA
PROTEIN CHANGE p.Gly76GlufsTer3
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone0.915079None
DBSNP ID rs527236083
1 combination linked to MERTK:c.225delA, p.Gly76GlufsTer3 OLI450
1 disease linked to MERTK:c.225delA, p.Gly76GlufsTer3 Retinitis pigmentosa
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