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Details for SIX3:c.221C>G, p.Pro74Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
45169464	44942325

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.221C>G

PROTEIN CHANGE

p.Pro74Arg

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
0.0001787	7.848e-05	0.0001184	0.0001058	0.0	0.00027	0.0002953	0.0001804	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.991114	Polymorphism

DBSNP ID

1 combination linked to SIX3:c.221C>G, p.Pro74Arg

1 disease linked to SIX3:c.221C>G, p.Pro74Arg

Non-acquired combined pituitary hormone deficiency

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