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Details for CCNF:c.481G>A, p.Gly161Arg

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
2487264	2437263

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.481G>A

PROTEIN CHANGE

p.Gly161Arg

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
5.229e-05	0.0	0.0	0.0	0.0	0.0	8.847e-05	0.0	9.826e-05

ESP
AA	EA
0.0	0.0001163

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.020733	Disease causing

DBSNP ID

1 combination linked to CCNF:c.481G>A, p.Gly161Arg

1 disease linked to CCNF:c.481G>A, p.Gly161Arg

Amyotrophic lateral sclerosis

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