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Details for FEZ1:c.401C>T, p.Ser134Phe

CHROMOSOME

11

GENOMIC COORDINATES

hg19	hg38
125351440	125481544

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.401C>T

PROTEIN CHANGE

p.Ser134Phe

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
5.966e-05	0.0	0.0	0.0	0.0007611	0.0	8.794e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.325124	Disease causing

DBSNP ID

1 combination linked to FEZ1:c.401C>T, p.Ser134Phe

1 disease linked to FEZ1:c.401C>T, p.Ser134Phe

Kallmann syndrome

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