| Variant ID | 29854 |
|---|---|
| Entrez Gene ID | 2984 |
| Gene | GUCY2C (GeneCards) |
| Location | hg19 12:14805939-14805939
hg38 12:14653005-14653005 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.14805939 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4652 |
| CADD Raw score (version 1.3) | 5.721065 (Deleterious) |
| FATHMM raw prediction score | 0.97547 (Tolerated) |
| SIFT score | 0.086 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -2.02 (Tolerated) |
| MetaSVM score | -0.289 (Tolerated) |
| MetaLR score | 0.415 (Tolerated) |
| MCAP score | 0.173 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.18 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.595 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.668 |
| Deleterious probability by iFish2 | 0.6226 (Deleterious) |
| Deleterious probability by DeFine | 0.949 (Deleterious) |
| Entrez Gene ID | 2984 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GUCY2C (GeneCards) |
| Number of variants in GUCY2C in this database | 3 (view all the variants) |
| Full name | guanylate cyclase 2C |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000168732 OMIM: 601330 HGNC: HGNC:4688 Ensembl: ENSG00000070019 |
| Other names | GC-C, STAR, DIAR6, GUC2C, MECIL, MUCIL |
| Summary | This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016] |
| Individual ID | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |