Details for FLVCR1:c.720del, p.Ala241ProfsTer19

CHROMOSOME 1
GENOMIC COORDINATES
hg19hg38
213032512212859170
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE FLVCR1
REFERENCE ALLELE AC
ALTERNATE ALLELE A
TRANSCRIPT NM_014053.4
CDNA CHANGE c.720del
PROTEIN CHANGE p.Ala241ProfsTer19
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.330124Disease causing
DBSNP ID NA
1 combination linked to FLVCR1:c.720del, p.Ala241ProfsTer19 OLI449
1 disease linked to FLVCR1:c.720del, p.Ala241ProfsTer19 Retinitis pigmentosa
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