HERC1 Chromosome 15
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
Upload your DNA to see your personal genotypes for variants in HERC1.
What This Gene Does
This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"WD repeat domain containing|HECT and RLD domain containing E3 ubiquitin protein ligases"
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000103657
Associated Conditions (10)
Macrocephaly
dysmorphic facies
and psychomotor retardation
HERC1-related disorder
Inborn genetic diseases
Multiple congenital anomalies/dysmorphic syndrome
See cases
Megalencephaly with thick corpus callosum
cerebellar atrophy
and intellectual disability
Key Variants
RS1025829736
Conflicting classifications of pathogenicity
Macrocephaly, dysmorphic facies, and psychomotor retardation
Health Risk
RS185430973
Conflicting classifications of pathogenicity
Macrocephaly, dysmorphic facies, and psychomotor retardation
Health Risk
RS201312041
Conflicting classifications of pathogenicity
Health Risk
RS201335263
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201387092
Conflicting classifications of pathogenicity
HERC1-related disorder, HERC1-related disorder
Health Risk
RS368093789
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368471505
Conflicting classifications of pathogenicity
HERC1-related disorder, HERC1-related disorder
Health Risk
RS370890182
Conflicting classifications of pathogenicity
Multiple congenital anomalies/dysmorphic syndrome, Multiple congenital anomalies/dysmorphic syndrome
Health Risk
RS374249242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Macrocephaly, dysmorphic facies
Health Risk
RS568826186
Conflicting classifications of pathogenicity
Macrocephaly, dysmorphic facies, and psychomotor retardation
Health Risk
RS746888105
Conflicting classifications of pathogenicity
HERC1-related disorder, HERC1-related disorder
Health Risk
RS753441944
Conflicting classifications of pathogenicity
Macrocephaly, dysmorphic facies, and psychomotor retardation
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1025829736 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS185430973 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS201312041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201335263 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201387092 | Health Risk | Conflicting classifications of pathogenicity | HERC1-related disorder, HERC1-related disorder |
| RS368093789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368471505 | Health Risk | Conflicting classifications of pathogenicity | HERC1-related disorder, HERC1-related disorder |
| RS370890182 | Health Risk | Conflicting classifications of pathogenicity | Multiple congenital anomalies/dysmorphic syndrome, Multiple congenital anomalies/dysmorphic syndrome |
| RS374249242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Macrocephaly, dysmorphic facies |
| RS568826186 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS746888105 | Health Risk | Conflicting classifications of pathogenicity | HERC1-related disorder, HERC1-related disorder |
| RS753441944 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS755381283 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Macrocephaly, dysmorphic facies |
| RS80203202 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS901441145 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS1064794786 | Health Risk | Likely pathogenic | — |
| RS1064796508 | Health Risk | Likely pathogenic | — |
| RS1085307759 | Health Risk | Likely pathogenic | — |
| RS1131691853 | Health Risk | Likely pathogenic | — |
| RS1274296464 | Health Risk | Likely pathogenic | — |
| RS1555404908 | Health Risk | Likely pathogenic | — |
| RS1555417272 | Health Risk | Likely pathogenic | — |
| RS1567094729 | Health Risk | Likely pathogenic | — |
| RS1595819527 | Health Risk | Likely pathogenic | — |
| RS2152800486 | Health Risk | Likely pathogenic | — |
| RS2152910468 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2152979136 | Health Risk | Likely pathogenic | — |
| RS2550842376 | Health Risk | Likely pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS2551273132 | Health Risk | Likely pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS757749585 | Health Risk | Likely pathogenic | — |
| RS772789325 | Health Risk | Likely pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS797045141 | Health Risk | Likely pathogenic | Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability |
| RS1205782054 | Health Risk | Pathogenic | — |
| RS1379420634 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2076073941 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2142998794 | Health Risk | Pathogenic | — |
| RS2538128683 | Health Risk | Pathogenic | — |
| RS2550904760 | Health Risk | Pathogenic | — |
| RS2551074619 | Health Risk | Pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS2551077319 | Health Risk | Pathogenic | — |
| RS2551285409 | Health Risk | Pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS2551345158 | Health Risk | Pathogenic | — |
| RS2551493276 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS753780877 | Health Risk | Pathogenic | Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability |
| RS757446033 | Health Risk | Pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS769677823 | Health Risk | Pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS776053920 | Health Risk | Pathogenic | HERC1-related disorder, HERC1-related disorder |
| RS879253786 | Health Risk | Pathogenic | Macrocephaly, dysmorphic facies, and psychomotor retardation |
| RS554917974 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS774206954 | Health Risk | Pathogenic/Likely pathogenic | — |