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ITPR2

inositol 1,4,5-trisphosphate receptor type 2

HCNC Approved Symbol
ITPR2 (HGNC:6181)
Genomic Coordinates
12:26,335,352 - 26,833,194 (12p11.23)
Synonyms
IP3R2, CFAP48
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
?Anhidrosis, isolated, with normal sweat glands
106190AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the ITPR2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results