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Details for BBS12:p.Thr501Met

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123664549	122743394

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Thr501Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.579e-05	0.0005536	0.0	0.0	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
0.0004539	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.668629	Disease causing

DBSNP ID

1 combination linked to BBS12:p.Thr501Met

3 diseases linked to BBS12:p.Thr501Met

Alström syndrome; McKusick-Kaufman syndrome; Bardet-Biedl syndrome

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