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 HEATR3:c.395_396delAA,

CHROMOSOME

16

GENOMIC COORDINATES

hg19	hg38
50102771	50068860

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

TAA

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.395_396delAA

PROTEIN CHANGE

None

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	2.890181	Disease causing

DBSNP ID

1 combination linked to HEATR3:c.395_396delAA,

1 disease linked to HEATR3:c.395_396delAA,

Primary immunodeficiency

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