Details for BBS2:c.1707C>T, p.Gln569Ter

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
5653174756497835
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE BBS2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1707C>T
PROTEIN CHANGE p.Gln569Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.852431Disease causing
DBSNP ID rs1555521501
1 combination linked to BBS2:c.1707C>T, p.Gln569Ter OLI173
1 disease linked to BBS2:c.1707C>T, p.Gln569Ter Bardet-Biedl syndrome
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