Details for BBS2:c.374T>G, p.Leu125Arg

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5654516856511256
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS2
REFERENCE ALLELE A
ALTERNATE ALLELE C
TRANSCRIPT NM_031885.3
CDNA CHANGE c.374T>G
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:c.374T>G, p.Leu125Arg OLI1121; OLI1132
1 disease linked to BBS2:c.374T>G, p.Leu125Arg Bardet-Biedl syndrome
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