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Details for FGFR1:c.304G>A, p.Val102Ile

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38287254	38429736

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.304G>A

PROTEIN CHANGE

p.Val102Ile

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0	0.0014	0.001	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004199	0.0	0.0004676	0.001204	0.002712	0.0	0.0001917	0.0	0.0001143

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.655423	Polymorphism

DBSNP ID

1 combination linked to FGFR1:c.304G>A, p.Val102Ile

1 disease linked to FGFR1:c.304G>A, p.Val102Ile

Hypogonadotropic hypogonadism with absent puberty phenotype

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