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 ORAI1:c.126_127insA, p.Pro43ThrfsTer47

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
122064774	121626869

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

CA

TRANSCRIPT

CDNA CHANGE

c.126_127insA

PROTEIN CHANGE

p.Pro43ThrfsTer47

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	2.440718	Polymorphism

DBSNP ID

1 combination linked to ORAI1:c.126_127insA, p.Pro43ThrfsTer47

1 disease linked to ORAI1:c.126_127insA, p.Pro43ThrfsTer47

Rare pervasive developmental disorder

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