Details for ADGRV1:c.17668_17669delAT, p.Met5890fsTer10

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
9015163090855813
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE ADGRV1
REFERENCE ALLELE CAT
ALTERNATE ALLELE C
TRANSCRIPT NM_032119.4
CDNA CHANGE c.17668_17669delAT
PROTEIN CHANGE p.Met5890fsTer10
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
6.046e-050.00012962.927e-050.00.00.09.764e-050.00016620.0

ESP
AAEA
0.00052880.0005031
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone6.954218Disease causing
DBSNP ID rs757696771
1 combination linked to ADGRV1:c.17668_17669delAT, p.Met5890fsTer10 OLI108
1 disease linked to ADGRV1:c.17668_17669delAT, p.Met5890fsTer10 Usher syndrome type 2
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