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Details for FGFR1:c.119A>C, p.Asp40Ala

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
38285926	38428408

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.119A>C

PROTEIN CHANGE

p.Asp40Ala

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
0.0001417	0.0	0.0	0.0	0.0	0.0	7.221e-05	0.0	0.0008828

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.787809	Disease causing

DBSNP ID

1 combination linked to FGFR1:c.119A>C, p.Asp40Ala

1 disease linked to FGFR1:c.119A>C, p.Asp40Ala

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