ERMARD Chromosome 6
ER membrane associated RNA degradation
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What This Gene Does
The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Associated Conditions (2)
ERMARD-related disorder
Periventricular nodular heterotopia 6
Key Variants
RS117593791
Conflicting classifications of pathogenicity
Health Risk
RS143351214
Conflicting classifications of pathogenicity
Health Risk
RS146747272
Conflicting classifications of pathogenicity
ERMARD-related disorder, ERMARD-related disorder
Health Risk
RS151283330
Conflicting classifications of pathogenicity
ERMARD-related disorder, ERMARD-related disorder
Health Risk
RS187725532
Conflicting classifications of pathogenicity
Health Risk
RS200319641
Conflicting classifications of pathogenicity
Health Risk
RS201637565
Conflicting classifications of pathogenicity
Health Risk
RS201722909
Conflicting classifications of pathogenicity
Health Risk
RS376417698
Conflicting classifications of pathogenicity
Health Risk
RS552023965
Conflicting classifications of pathogenicity
Health Risk
RS555583101
Conflicting classifications of pathogenicity
ERMARD-related disorder, ERMARD-related disorder
Health Risk
RS74451194
Conflicting classifications of pathogenicity
ERMARD-related disorder, ERMARD-related disorder
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117593791 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143351214 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146747272 | Health Risk | Conflicting classifications of pathogenicity | ERMARD-related disorder, ERMARD-related disorder |
| RS151283330 | Health Risk | Conflicting classifications of pathogenicity | ERMARD-related disorder, ERMARD-related disorder |
| RS187725532 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200319641 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201637565 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201722909 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376417698 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS552023965 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS555583101 | Health Risk | Conflicting classifications of pathogenicity | ERMARD-related disorder, ERMARD-related disorder |
| RS74451194 | Health Risk | Conflicting classifications of pathogenicity | ERMARD-related disorder, ERMARD-related disorder |
| RS747627800 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77857406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1793536857 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 |
| RS2128344292 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 |
| RS762266071 | Health Risk | Likely pathogenic | Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 |
| RS398122410 | Health Risk | Pathogenic | Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 |