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Details for SPATA20:c.151C>T, p.Arg51Ter

CHROMOSOME

17

GENOMIC COORDINATES

hg19	hg38
48625669	50548308

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.151C>T

PROTEIN CHANGE

p.Arg51Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0006	0.0015	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001921	0.001859	5.795e-05	0.0	0.0	4.634e-05	0.0001243	0.0	3.271e-05

ESP
AA	EA
0.001589	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.096965	Disease causing

DBSNP ID

1 combination linked to SPATA20:c.151C>T, p.Arg51Ter

1 disease linked to SPATA20:c.151C>T, p.Arg51Ter

Colorectal cancer

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