ATP2A1 - Gene browser | 3billion

ATP2A1

ATP2A1

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

HCNC Approved Symbol: ATP2A1 (HGNC:811)
Genomic Coordinates: 16:28,878,488 - 28,904,466 (16p11.2)
Synonyms: SERCA1, ATP2A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ATP2A1 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

Elevated serum cpk: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Myositis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

ATP2A1 - Gene browser | 3billion