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Details for BBS12:c.116T>C, p.Ile39Thr

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123663163	122742008

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.116T>C

PROTEIN CHANGE

p.Ile39Thr

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0086	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006306	0.001046	0.005501	0.01221	0.0	0.002496	0.008615	0.009483	0.005336

ESP
AA	EA
0.001135	0.007674

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.518725	Polymorphism

DBSNP ID

2 combinations linked to BBS12:c.116T>C, p.Ile39Thr

OLI1120; OLI322

1 disease linked to BBS12:c.116T>C, p.Ile39Thr

Bardet-Biedl syndrome

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