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Details for FOXC1:c.609delC, p.Ala204ArgfsTer111

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
1611286	1611051

VARIANT EFFECT

frameshift

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

GC

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.609delC

PROTEIN CHANGE

p.Ala204ArgfsTer111

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.645667	Disease causing

DBSNP ID

1 combination linked to FOXC1:c.609delC, p.Ala204ArgfsTer111

1 disease linked to FOXC1:c.609delC, p.Ala204ArgfsTer111

Axenfeld-Rieger syndrome

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