CHMP1A Chromosome 16
Charged multivesicular body protein 1A
Upload your DNA to see your personal genotypes for variants in CHMP1A.
What This Gene Does
This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
"Charged multivesicular body proteins|ESCRT-III associated factors"
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000131165
Associated Conditions (5)
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 8
CHMP1A-related disorder
Inborn genetic diseases
Pontoneocerebellar hypoplasia
Key Variants
RS1064794609
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 1A
Health Risk
RS114931496
Conflicting classifications of pathogenicity
CHMP1A-related disorder, CHMP1A-related disorder
Health Risk
RS1188500920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187184327
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 8, CHMP1A-related disorder, Pontocerebellar hypoplasia type 8
Health Risk
RS199628110
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8
Health Risk
RS200606123
Conflicting classifications of pathogenicity
Health Risk
RS201479143
Conflicting classifications of pathogenicity
CHMP1A-related disorder, CHMP1A-related disorder
Health Risk
RS201945919
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369898047
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370480409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375600636
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS397515426
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 8, CHMP1A-related disorder, Pontocerebellar hypoplasia type 8
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794609 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 1A |
| RS114931496 | Health Risk | Conflicting classifications of pathogenicity | CHMP1A-related disorder, CHMP1A-related disorder |
| RS1188500920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187184327 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 8, CHMP1A-related disorder, Pontocerebellar hypoplasia type 8 |
| RS199628110 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8 |
| RS200606123 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201479143 | Health Risk | Conflicting classifications of pathogenicity | CHMP1A-related disorder, CHMP1A-related disorder |
| RS201945919 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369898047 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370480409 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375600636 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS397515426 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 8, CHMP1A-related disorder, Pontocerebellar hypoplasia type 8 |
| RS544036856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61730919 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748373933 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 8, Inborn genetic diseases, Pontocerebellar hypoplasia type 8 |
| RS764358419 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767659184 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770270286 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS943952854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2151511838 | Health Risk | Likely pathogenic | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS2543458244 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8 |
| RS2151516798 | Health Risk | Pathogenic | — |
| RS398122918 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8 |