Details for BBS2:p.Leu125Arg

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5654516856511256
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Leu125Arg
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.69612Disease causing
DBSNP ID NA
2 combinations linked to BBS2:p.Leu125Arg OLI081; OLI082
2 diseases linked to BBS2:p.Leu125Arg Alström syndrome; Bardet-Biedl syndrome
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