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Details for SIX5:c.2146G>A, p.Glu716Lys

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
46268833	45765575

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.2146G>A

PROTEIN CHANGE

p.Glu716Lys

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
2.789e-05	0.0	0.0	0.0	5.443e-05	0.000231	8.817e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.622787	Polymorphism

DBSNP ID

1 combination linked to SIX5:c.2146G>A, p.Glu716Lys

1 disease linked to SIX5:c.2146G>A, p.Glu716Lys

Non-acquired combined pituitary hormone deficiency

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