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Details for HOXB3:c.859G>A, p.Glu287Lys

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
46628133	48550771

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.859G>A

PROTEIN CHANGE

p.Glu287Lys

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
4.05e-06	0.0	0.0	0.0	0.0	0.0	8.95e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.148823	Polymorphism

DBSNP ID

1 combination linked to HOXB3:c.859G>A, p.Glu287Lys

1 disease linked to HOXB3:c.859G>A, p.Glu287Lys

Congenital hypothyroidism

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