Details for BBS12:c.1502C>T, p.Thr501Met

CHROMOSOME 4
GENOMIC COORDINATES
hg19hg38
123664549122743394
VARIANT EFFECT None
ANNOTATION FLAG None
GENE BBS12
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_152618.3
CDNA CHANGE c.1502C>T
PROTEIN CHANGE p.Thr501Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00080.00.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
3.579e-050.00055360.00.00.00.00.00.00.0

ESP
AAEA
0.00045390.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.668629Disease causing
DBSNP ID rs138011813
1 combination linked to BBS12:c.1502C>T, p.Thr501Met OLI1131
1 disease linked to BBS12:c.1502C>T, p.Thr501Met Bardet-Biedl syndrome
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