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Details for HOXB3:c.290C>A, p.Thr97Asn

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
46629547	48552185

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.290C>A

PROTEIN CHANGE

p.Thr97Asn

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
3.99e-06	0.0	0.0	0.0	5.438e-05	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.666766	Polymorphism

DBSNP ID

1 combination linked to HOXB3:c.290C>A, p.Thr97Asn

1 disease linked to HOXB3:c.290C>A, p.Thr97Asn

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