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Details for HOXB3:c.196A>C, p.Ser66Arg

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
46629641	48552279

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.196A>C

PROTEIN CHANGE

p.Ser66Arg

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.755252	Polymorphism

DBSNP ID

1 combination linked to HOXB3:c.196A>C, p.Ser66Arg

1 disease linked to HOXB3:c.196A>C, p.Ser66Arg

Congenital hypothyroidism

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