Details for BBS5:c.551A>G, p.Asn184Ser

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
170350279169493769
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS5
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_152384.3
CDNA CHANGE c.551A>G
PROTEIN CHANGE p.Asn184Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00220.00.00430.00.0070.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.004190.00043110.0016490.0045645.437e-050.0048050.0069790.0032640.0008169

ESP
AAEA
0.0002270.00698
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.620418Polymorphism
DBSNP ID rs137853921
2 combinations linked to BBS5:c.551A>G, p.Asn184Ser OLI1125; OLI1448
1 disease linked to BBS5:c.551A>G, p.Asn184Ser Bardet-Biedl syndrome
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