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Details for FEZF1:c.722T>A, p.Ile241Asn

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
121943770	122303716

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.722T>A

PROTEIN CHANGE

p.Ile241Asn

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
3.977e-06	0.0	0.0	0.0	0.0	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.494317	Polymorphism

DBSNP ID

2 combinations linked to FEZF1:c.722T>A, p.Ile241Asn

OLI1275; OLI1299

2 diseases linked to FEZF1:c.722T>A, p.Ile241Asn

Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome

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