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Details for FAT1:c.13652C>G, p.Ala4551Gly

CHROMOSOME

4

GENOMIC COORDINATES

hg19	hg38
187509861	186588707

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.13652C>G

PROTEIN CHANGE

p.Ala4551Gly

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0044	0.0	0.0	0.0218	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001517	0.0001935	5.794e-05	0.00159	0.01892	0.0	3.542e-05	0.0008262	0.0002614

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.81954	Polymorphism

DBSNP ID

1 combination linked to FAT1:c.13652C>G, p.Ala4551Gly

1 disease linked to FAT1:c.13652C>G, p.Ala4551Gly

Major depressive disorder

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