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 CACNA1H:c.1508G>A, p.Arg503His

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
1251958	1201958

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1508G>A

PROTEIN CHANGE

p.Arg503His

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
8.436e-05	0.001364	4.093e-05	0.0	0.0	0.0	1.922e-05	0.0	4.452e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Possibly Damaging	1.712031	Polymorphism

DBSNP ID

1 combination linked to CACNA1H:c.1508G>A, p.Arg503His

1 disease linked to CACNA1H:c.1508G>A, p.Arg503His

Rare pervasive developmental disorder

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