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Details for FEZF1:c.253A>G, p.Ser85Gly

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
121944239	122304185

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.253A>G

PROTEIN CHANGE

p.Ser85Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0016	0.0	0.0014	0.0	0.006	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.005817	0.001057	0.002106	0.0	0.0	0.013	0.008066	0.005977	0.004541

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.558951	Polymorphism

DBSNP ID

1 combination linked to FEZF1:c.253A>G, p.Ser85Gly

1 disease linked to FEZF1:c.253A>G, p.Ser85Gly

Kallmann syndrome

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