| Variant ID | 22018 |
|---|---|
| Entrez Gene ID | 3730 |
| Gene | KAL1 (GeneCards) |
| Location | hg19 X:8682448-8682448
hg38 X:8714407-8714407 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000023.10:g.8682448 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.287358 (Deleterious) |
| FATHMM raw prediction score | 0.39149 (Tolerated) |
| Deleterious probability by DeFine | 0.6963 (Deleterious) |
| Entrez Gene ID | 3730 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KAL1 (GeneCards) |
| Number of variants in ANOS1 in this database | 3 (view all the variants) |
| Full name | anosmin 1 |
| Band | Xp22.31 |
| Other IDs | Vega: OTTHUMG00000021107 OMIM: 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] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |