Details for BBS4:c.181G>A, p.Glu61Lys

CHROMOSOME 15
GENOMIC COORDINATES
hg19hg38
7300460972712268
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS4
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_033028.5
CDNA CHANGE c.181G>A
PROTEIN CHANGE p.Glu61Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign2.878731None
DBSNP ID rs1251827333
2 combinations linked to BBS4:c.181G>A, p.Glu61Lys OLI1121; OLI1132
1 disease linked to BBS4:c.181G>A, p.Glu61Lys Bardet-Biedl syndrome
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