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Details for BBS12:c.355G>A, p.Gly119Ser

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
123663402	122742247

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.355G>A

PROTEIN CHANGE

p.Gly119Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0044	0.0166	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001595	0.01423	0.001854	0.005892	0.0	0.0	0.0003207	0.001641	0.0

ESP
AA	EA
0.01158	0.0003488

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.186604	Polymorphism

DBSNP ID

3 combinations linked to BBS12:c.355G>A, p.Gly119Ser

OLI078; OLI1128; OLI142

3 diseases linked to BBS12:c.355G>A, p.Gly119Ser

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

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