This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for CDCA8:c.400C>T, p.Arg134Cys

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
38166170	37700498

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.400C>T

PROTEIN CHANGE

p.Arg134Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0004017	6.152e-05	0.0	0.0	0.00435	0.0	3.518e-05	0.0003262	0.0004573

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.937401	Polymorphism

DBSNP ID

2 combinations linked to CDCA8:c.400C>T, p.Arg134Cys

OLI1080; OLI1086

1 disease linked to CDCA8:c.400C>T, p.Arg134Cys

Congenital hypothyroidism

Found any issues with the data on this page? Report this entry.