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Details for GLI2:c.1859C>T, p.Thr620Met

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121742222	120984646

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1859C>T

PROTEIN CHANGE

p.Thr620Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0022	0.0	0.0	0.0	0.003	0.0082

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002319	0.0002475	0.0003761	0.002984	0.0	0.0001849	0.001664	0.003265	0.01052

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.916203	Polymorphism

DBSNP ID

1 combination linked to GLI2:c.1859C>T, p.Thr620Met

1 disease linked to GLI2:c.1859C>T, p.Thr620Met

Bardet-Biedl syndrome

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