| Entrez Gene ID | 3730 |
|---|---|
| Official Gene Symbol | ANOS1 (GeneCards) |
| Full name | anosmin 1 |
| Location | Xp22.31 |
| Other ids | Vega : OTTHUMG00000021107 MIM : 300836 HGNC : HGNC:6211 Ensembl : ENSG00000011201 |
| Other names | HH1, HHA, KAL, KMS, KAL1, ADMLX, WFDC19, KALIG-1 |
| Summary | Mutations in this gene cause the X-linked Kallmann syndrome. The encoded protein is similar in sequence to proteins known to function in neural cell adhesion and axonal migration. In addition, this cell surface protein is N-glycosylated and may have anti-protease activity. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22018 | 3730 | KAL1 | X | 8682448 | 8682448 | Asymptomatic | HiSeq X Ten |
| 28867 | 3730 | KAL1 | X | 8756903 | 8756903 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29013 | 3730 | KAL1 | X | 8650019 | 8650019 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |