ARCN1 Chromosome 11
Archain 1 coat protein complex I subunit delta
Upload your DNA to see your personal genotypes for variants in ARCN1.
What This Gene Does
This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Coat protein complex I
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000095139
Associated Conditions (8)
Inborn genetic diseases
Short stature
rhizomelic
with microcephaly
micrognathia
and developmental delay
See cases
ARCN1-related disorder
Key Variants
RS1329762657
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141407311
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146311433
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1938701120
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1938940159
Conflicting classifications of pathogenicity
Inborn genetic diseases, Short stature, rhizomelic
Health Risk
RS200207376
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2497675198
Conflicting classifications of pathogenicity
Inborn genetic diseases, Short stature, rhizomelic
Health Risk
RS2497740455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370276107
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370952253
Conflicting classifications of pathogenicity
Short stature, rhizomelic, with microcephaly
Health Risk
RS576670749
Conflicting classifications of pathogenicity
Health Risk
RS782280953
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1329762657 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141407311 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146311433 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1938701120 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1938940159 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Short stature, rhizomelic |
| RS200207376 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2497675198 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Short stature, rhizomelic |
| RS2497740455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370276107 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370952253 | Health Risk | Conflicting classifications of pathogenicity | Short stature, rhizomelic, with microcephaly |
| RS576670749 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782280953 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782775362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782777693 | Health Risk | Conflicting classifications of pathogenicity | Short stature, rhizomelic, with microcephaly |
| RS1939060948 | Health Risk | Likely pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2135539546 | Health Risk | Likely pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2135542758 | Health Risk | Likely pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2497688582 | Health Risk | Likely pathogenic | Short stature, rhizomelic, with microcephaly |
| RS1018525321 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS1555074545 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1565363889 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2135542081 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2135556648 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2497682237 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2497687936 | Health Risk | Pathogenic | — |
| RS2497705812 | Health Risk | Pathogenic | See cases, ARCN1-related disorder, See cases |
| RS2497705927 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2497706395 | Health Risk | Pathogenic | — |
| RS2497713595 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2497714207 | Health Risk | Pathogenic | — |
| RS2497717723 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS782373336 | Health Risk | Pathogenic | — |
| RS886040858 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS886040859 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS886040860 | Health Risk | Pathogenic | Short stature, rhizomelic, with microcephaly |
| RS1591385240 | Health Risk | Pathogenic/Likely pathogenic | Short stature, rhizomelic, with microcephaly |
| RS2135556662 | Health Risk | Pathogenic/Likely pathogenic | ARCN1-related disorder, ARCN1-related disorder |