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Details for FGF13:c.529T>C, p.Ser177Pro

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
137715061	138632900

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.529T>C

PROTEIN CHANGE

p.Ser177Pro

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
0.0002183	0.0	0.0002195	0.004541	0.0	0.0	0.0	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.73134	Polymorphism

DBSNP ID

1 combination linked to FGF13:c.529T>C, p.Ser177Pro

1 disease linked to FGF13:c.529T>C, p.Ser177Pro

Kallmann syndrome

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