HELLS Chromosome 10
Helicase, lymphoid specific
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What This Gene Does
This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"SNF2 related family|DexD/H helicases"
Locus Type
gene with protein product
Location
10q23.33
Ensembl
ENSG00000119969
Associated Conditions (2)
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Inborn genetic diseases
Key Variants
RS116043383
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Health Risk
RS772237527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773771433
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Health Risk
RS780887609
Conflicting classifications of pathogenicity
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Health Risk
RS1490579507
Likely pathogenic
Health Risk
RS879253737
Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Health Risk
RS1314843352
Pathogenic
Health Risk
RS140316223
Pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Health Risk
RS2493088769
Pathogenic
Health Risk
RS2493227029
Pathogenic
Health Risk
RS2493269726
Pathogenic
Health Risk
RS2493271796
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116043383 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Inborn genetic diseases, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS772237527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773771433 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS780887609 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS1490579507 | Health Risk | Likely pathogenic | — |
| RS879253737 | Health Risk | Likely pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS1314843352 | Health Risk | Pathogenic | — |
| RS140316223 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS2493088769 | Health Risk | Pathogenic | — |
| RS2493227029 | Health Risk | Pathogenic | — |
| RS2493269726 | Health Risk | Pathogenic | — |
| RS2493271796 | Health Risk | Pathogenic | — |
| RS2493280297 | Health Risk | Pathogenic | — |
| RS757191914 | Health Risk | Pathogenic | — |
| RS879253733 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS879253734 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS879253735 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |
| RS879253736 | Health Risk | Pathogenic | Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4 |