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Details for HOXD3:c.575C>G, p.Pro192Arg

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
177036278	176171550

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.575C>G

PROTEIN CHANGE

p.Pro192Arg

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	Damaging	3.545529	Disease causing

DBSNP ID

1 combination linked to HOXD3:c.575C>G, p.Pro192Arg

1 disease linked to HOXD3:c.575C>G, p.Pro192Arg

Congenital hypothyroidism

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