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Details for GLI1:c.3308del,

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57865830	57472047

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

AA

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.3308del

PROTEIN CHANGE

None

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.975e-06	0.0	0.0	0.0	0.0	0.0	1.209e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	5.11519	Disease causing

DBSNP ID

1 combination linked to GLI1:c.3308del,

1 disease linked to GLI1:c.3308del,

Non-acquired combined pituitary hormone deficiency

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