ATP2C1 - Gene browser

ATP2C1

ATPase secretory pathway Ca2+ transporting 1

HCNC Approved Symbol: ATP2C1 (HGNC:13211)
Genomic Coordinates: 3:130,850,595 - 131,016,712 (3q22.1)
Synonyms: KIAA1347, ATP2C1A, PMR1, SPCA1, BCPM
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the ATP2C1 gene.

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

01
Patient count

Blistering skin: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Erythroderma: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hyperhydrosis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Recurrent skin infections: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Skin itching: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)