This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for FGFR1:p.Ala604Thr

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38273432	38415914

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

None

PROTEIN CHANGE

p.Ala604Thr

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
1.201e-05	0.0	2.896e-05	0.0	0.0	0.0	1.765e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	3.571252	Disease causing

DBSNP ID

1 combination linked to FGFR1:p.Ala604Thr

1 disease linked to FGFR1:p.Ala604Thr

Kallmann syndrome

Found any issues with the data on this page? Report this entry.