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 CACNB2:c.1891C>T, p.Arg631Cys

CHROMOSOME

10

GENOMIC COORDINATES

hg19	hg38
18828645	18539716

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1891C>T

PROTEIN CHANGE

p.Arg631Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.003	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002499	0.003102	0.0002133	0.0	0.0	0.0	1.829e-05	0.0003484	3.509e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.543214	Polymorphism

DBSNP ID

1 combination linked to CACNB2:c.1891C>T, p.Arg631Cys

1 disease linked to CACNB2:c.1891C>T, p.Arg631Cys

Rare pervasive developmental disorder

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