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Details for FGFR1:c.5C>T, p.Ala2Val

CHROMOSOME

19

GENOMIC COORDINATES

hg19	hg38
41725302	41219397

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.5C>T

PROTEIN CHANGE

p.Ala2Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0008	0.0	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.517e-05	0.0004683	6.295e-05	0.0	5.984e-05	0.0	2.089e-05	0.0001844	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	0.873192	Polymorphism

DBSNP ID

1 combination linked to FGFR1:c.5C>T, p.Ala2Val

1 disease linked to FGFR1:c.5C>T, p.Ala2Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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