Details for BBS2:c.1673C>T, p.Thr558Ile

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653177956497867
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1673C>T
PROTEIN CHANGE p.Thr558Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.169124None
DBSNP ID NA
1 combination linked to BBS2:c.1673C>T, p.Thr558Ile OLI1229
1 disease linked to BBS2:c.1673C>T, p.Thr558Ile Bardet-Biedl syndrome
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