Details for ROM1:c.339dup, p.Leu114AlafsTer18

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
6238108362613611
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ROM1
REFERENCE ALLELE T
ALTERNATE ALLELE TG
TRANSCRIPT NM_000327.4
CDNA CHANGE c.339dup
PROTEIN CHANGE p.Leu114AlafsTer18
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0013980.0020510.00034840.0015510.0051970.00061050.0011870.00055930.001396

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone2.381278Disease causing
DBSNP ID rs71458427
1 combination linked to ROM1:c.339dup, p.Leu114AlafsTer18 OLI223
1 disease linked to ROM1:c.339dup, p.Leu114AlafsTer18 Retinitis pigmentosa
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