POPDC3 Chromosome 6
Popeye domain cAMP effector 3
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What This Gene Does
This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Associated Conditions (3)
Muscular dystrophy
limb-girdle
autosomal recessive 26
Key Variants
RS1054547392
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
RS113419658
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
RS1311819000
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
RS1437210856
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
RS1478322852
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
RS2533591502
Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1054547392 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |
| RS113419658 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |
| RS1311819000 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |
| RS1437210856 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |
| RS1478322852 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |
| RS2533591502 | Health Risk | Pathogenic | Muscular dystrophy, limb-girdle, autosomal recessive 26 |