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Details for HOXA13:c.618C>G, p.Phe206Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
27239079	27199460

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.618C>G

PROTEIN CHANGE

p.Phe206Leu

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
2.055e-05	0.0	0.0	0.0	0.0	0.0	1.843e-05	0.0	9.824e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.243002	Polymorphism

DBSNP ID

1 combination linked to HOXA13:c.618C>G, p.Phe206Leu

1 disease linked to HOXA13:c.618C>G, p.Phe206Leu

Disorder of sex development

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