Details for BBS7:c.187G>A, p.Gly63Arg

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
122782813121861658
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS7
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_176824.2
CDNA CHANGE c.187G>A
PROTEIN CHANGE p.Gly63Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.991e-050.02.895e-050.00.00.03.522e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.839615Disease causing
DBSNP ID rs754579374
1 combination linked to BBS7:c.187G>A, p.Gly63Arg OLI097
1 disease linked to BBS7:c.187G>A, p.Gly63Arg Bardet-Biedl syndrome
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