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Gene BrowserrightATP2A2

ATP2A2

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

HCNC Approved Symbol
ATP2A2 (HGNC:812)
Genomic Coordinates
12:110,280,616 - 110,351,093 (12q24.11)
Synonyms
SERCA2, ATP2B, DAR
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

1Patient

Total 1 patient was diagnosed with a variant in the ATP2A2 gene.

Frequently observed phenotypes (Top 5 only)

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

01
Patient count
Abnormal nails
 1(100.0%)
Patient Count: 1 (100.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(100.0%)
Palmoplantar keratoderma
 1(100.0%)
Patient Count: 1 (100.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(100.0%)
Sparse scalp hair
 1(100.0%)
Patient Count: 1 (100.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(100.0%)
Woolly hair
 1(100.0%)
Patient Count: 1 (100.0%)

% of total patients presenting each phenotype is shown in parentheses.

 1(100.0%)
No Results
• Last updated: 2024-06-30
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