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Details for FGFR1:c.659G>A, p.Arg220His

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38285494	38427976

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.659G>A

PROTEIN CHANGE

p.Arg220His

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
6.01e-05	6.457e-05	8.689e-05	0.0	0.0	0.0	8.827e-05	0.0	3.268e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.505356	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.659G>A, p.Arg220His

1 disease linked to FGFR1:c.659G>A, p.Arg220His

Syndrome with 46,XY disorder of sex development

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