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Details for FGF8:c.386G>A, p.Arg129Gln

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
103531278	101771521

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.386G>A

PROTEIN CHANGE

p.Arg129Gln

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
2.386e-05	0.0	2.891e-05	0.0	0.0	0.0	2.637e-05	0.0	6.533e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.138234	Polymorphism

DBSNP ID

1 combination linked to FGF8:c.386G>A, p.Arg129Gln

1 disease linked to FGF8:c.386G>A, p.Arg129Gln

Kallmann syndrome

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