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Details for FEZF1:c.614C>T, p.Ala205Val

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
121943728	122303674

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.614C>T

PROTEIN CHANGE

p.Ala205Val

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
1.591e-05	0.0001232	0.0	0.0	0.0001087	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	2.593494	Polymorphism

DBSNP ID

1 combination linked to FEZF1:c.614C>T, p.Ala205Val

1 disease linked to FEZF1:c.614C>T, p.Ala205Val

Kallmann syndrome

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