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Details for FEZF1:c.553T>C, p.Phe185Leu

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
121943939	122303885

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.553T>C

PROTEIN CHANGE

p.Phe185Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.0	0.0	0.0041

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005665	0.0	5.789e-05	0.0	5.445e-05	0.0	0.0001943	0.0003271	0.003758

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.505438	Polymorphism

DBSNP ID

1 combination linked to FEZF1:c.553T>C, p.Phe185Leu

1 disease linked to FEZF1:c.553T>C, p.Phe185Leu

Syndrome with 46,XY disorder of sex development

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