Details for RP1:c.1419_1420delTG, p.Thr473Thrfs13

CHROMOSOME 8
GENOMIC COORDINATES
hg19hg38
5553786054625300
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE RP1
REFERENCE ALLELE CTG
ALTERNATE ALLELE C
TRANSCRIPT NM_006269.2
CDNA CHANGE c.1419_1420delTG
PROTEIN CHANGE p.Thr473Thrfs13
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.426877Disease causing
DBSNP ID rs1239429520
1 combination linked to RP1:c.1419_1420delTG, p.Thr473Thrfs13 OLI447
1 disease linked to RP1:c.1419_1420delTG, p.Thr473Thrfs13 Retinitis pigmentosa
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