| Variant ID | 29554 |
|---|---|
| Entrez Gene ID | 6548 |
| Gene | SLC9A1 (GeneCards) |
| Location | hg19 1:27440652-27440652
hg38 1:27114161-27114161 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.27440652 C>T (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000323 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3741207 |
| Variant occurences in COSMIC | 1(liver) |
| EIGEN score | -0.7021 |
| CADD Raw score (version 1.3) | 1.29492 (Deleterious) |
| FATHMM raw prediction score | 0.10587 (Tolerated) |
| SIFT score | 0.472 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -0.475 (Tolerated) |
| PROVEAN score | 0.05 (Tolerated) |
| MetaSVM score | -0.998 (Tolerated) |
| MetaLR score | 0.014 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.223 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.035 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.021 |
| Deleterious probability by iFish2 | 0.0075 (Neutral) |
| Deleterious probability by DeFine | 0.9176 (Deleterious) |
| Entrez Gene ID | 6548 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC9A1 (GeneCards) |
| Number of variants in SLC9A1 in this database | 1 (view all the variants) |
| Full name | solute carrier family 9 member A1 |
| Band | 1p36.11 |
| Other IDs | Vega: OTTHUMG00000004271 OMIM: 107310 HGNC: HGNC:11071 Ensembl: ENSG00000090020 |
| Other names | APNH, NHE1, LIKNS, NHE-1, PPP1R143 |
| Summary | This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011] |
| Individual ID | 28714951.230 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |