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Details for STAR:c.295G>A, p.Glu99Lys

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38005729	38148211

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.295G>A

PROTEIN CHANGE

p.Glu99Lys

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
3.978e-06	0.0	0.0	0.0	0.0	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.982371	Disease causing

DBSNP ID

1 combination linked to STAR:c.295G>A, p.Glu99Lys

1 disease linked to STAR:c.295G>A, p.Glu99Lys

Primary adrenal insufficiency

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