Details for ADGRV1:c.17137delG, p.Ala5713LeufsTer3

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
9014457090848753
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ADGRV1
REFERENCE ALLELE TG
ALTERNATE ALLELE T
TRANSCRIPT NM_032119.4
CDNA CHANGE c.17137delG
PROTEIN CHANGE p.Ala5713LeufsTer3
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone3.471039Disease causing
DBSNP ID rs1554135663
1 combination linked to ADGRV1:c.17137delG, p.Ala5713LeufsTer3 OLI122
1 disease linked to ADGRV1:c.17137delG, p.Ala5713LeufsTer3 Usher syndrome type 2
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