Details for ROM1:c.239dup, p.Val81CysfsTer51

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6238098962613517
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ROM1
REFERENCE ALLELE T
ALTERNATE ALLELE TG
TRANSCRIPT NM_000327.4
CDNA CHANGE c.239dup
PROTEIN CHANGE p.Val81CysfsTer51
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.204e-050.00.00.00.00.02.672e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.740911Disease causing
DBSNP ID rs1387102485
1 combination linked to ROM1:c.239dup, p.Val81CysfsTer51 OLI222
1 disease linked to ROM1:c.239dup, p.Val81CysfsTer51 Retinitis pigmentosa
Found any issues with the data on this page? Report this entry.