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Details for CYP11A1:c.940G>A, p.Glu314Lys

CHROMOSOME

15

GENOMIC COORDINATES

hg19	hg38
74635368	74343027

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.940G>A

PROTEIN CHANGE

p.Glu314Lys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002529	0.0009227	0.0004914	0.0007938	0.0	0.002219	0.004237	0.002932	0.001568

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.367391	Disease causing

DBSNP ID

1 combination linked to CYP11A1:c.940G>A, p.Glu314Lys

1 disease linked to CYP11A1:c.940G>A, p.Glu314Lys

Primary adrenal insufficiency

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