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Details for FGFR1:c.1418G>A, p.Arg473Glu

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38275752	38418234

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1418G>A

PROTEIN CHANGE

p.Arg473Glu

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
2.404e-05	0.0	5.792e-05	0.0	0.0	0.0	3.531e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.397157	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.1418G>A, p.Arg473Glu

2 diseases linked to FGFR1:c.1418G>A, p.Arg473Glu

46,XY disorder of sex development; Rare congenital non-syndromic heart malformation

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