SEPTIN9 Chromosome 17
Septin 9
Upload your DNA to see your personal genotypes for variants in SEPTIN9.
What This Gene Does
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Septins
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000184640
Associated Conditions (8)
Amyotrophic neuralgia
Inborn genetic diseases
Charcot-Marie-Tooth disease
type I
SEPTIN9-related disorder
Neuralgic amyotrophy
Sarcoma
Cleft palate
Key Variants
RS1555659856
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Amyotrophic neuralgia
Health Risk
RS199557573
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia
Health Risk
RS199687508
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199861986
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Charcot-Marie-Tooth disease, type I
Health Risk
RS200031107
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, SEPTIN9-related disorder, Inborn genetic diseases
Health Risk
RS200536790
Conflicting classifications of pathogenicity
Neuralgic amyotrophy, Neuralgic amyotrophy
Health Risk
RS200850474
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201409034
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia
Health Risk
RS201442609
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201560726
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Sarcoma, Amyotrophic neuralgia
Health Risk
RS202079794
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367749123
Conflicting classifications of pathogenicity
Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555659856 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS199557573 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia |
| RS199687508 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199861986 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Charcot-Marie-Tooth disease, type I |
| RS200031107 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, SEPTIN9-related disorder, Inborn genetic diseases |
| RS200536790 | Health Risk | Conflicting classifications of pathogenicity | Neuralgic amyotrophy, Neuralgic amyotrophy |
| RS200850474 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201409034 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia |
| RS201442609 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201560726 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Sarcoma, Amyotrophic neuralgia |
| RS202079794 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS367749123 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia |
| RS372237745 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372535058 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373393647 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373496854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376008276 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376712636 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease, type I, Amyotrophic neuralgia |
| RS539303139 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS544797046 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, SEPTIN9-related disorder, Inborn genetic diseases |
| RS549141429 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS745391514 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749019982 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS760234906 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763954299 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS767758713 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769442066 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS772005682 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS773077664 | Health Risk | Conflicting classifications of pathogenicity | Cleft palate, Cleft palate |
| RS773291391 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775763949 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS779584313 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Amyotrophic neuralgia, Inborn genetic diseases |
| RS886053495 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS80338760 | Health Risk | Pathogenic | Amyotrophic neuralgia, Amyotrophic neuralgia |
| RS80338761 | Health Risk | Pathogenic | Amyotrophic neuralgia, Inborn genetic diseases, Amyotrophic neuralgia |
| RS80338762 | Health Risk | Pathogenic | Amyotrophic neuralgia, Amyotrophic neuralgia |