Details for BBS2:c.209G>A, p.Ser70Asn

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
NoneNone
VARIANT EFFECT missense
ANNOTATION FLAG ambiguous_variant
GENE BBS2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_031885.4
CDNA CHANGE c.209G>A
PROTEIN CHANGE p.Ser70Asn
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNoneNoneNone
DBSNP ID None
2 combinations linked to BBS2:c.209G>A, p.Ser70Asn OLI224; OLI832
2 diseases linked to BBS2:c.209G>A, p.Ser70Asn Acrocallosal syndrome; Bardet-Biedl syndrome
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