| Variant ID | 34634 |
|---|---|
| Entrez Gene ID | 3845 |
| Gene | KRAS (GeneCards) |
| Location | hg19 12:25398262-25398262
hg38 12:25245328-25245328 |
| Disease | Oculo ectodermal syndrome (view all the variants in this disease) |
| Method | Sanger Sequencing Ion Torrent Ampliseq |
| Mutation(HGVS format) | NC_000012.11:g.25398262 C>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 19 |
| Amino acid changes in protein | L > F |
| Position in cDNA | 57 |
| Changes in cDNA | G > C |
| mRNA accession | NM_033360.3 |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 12703 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|2(urinary_tract)|2(lung)|2(large_intestine)|1(central_nervous_system) |
| EIGEN score | 0.7861 |
| CADD Raw score (version 1.3) | 5.675974 (Deleterious) |
| FATHMM raw prediction score | 0.8714 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.83 (Tolerated) |
| PROVEAN score | -3.37 (Deleterious) |
| MetaSVM score | 0.814 (Deleterious) |
| MetaLR score | 0.819 (Deleterious) |
| MCAP score | 0.14 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.68 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.637 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.04 |
| Deleterious probability by iFish2 | 0.9255 (Deleterious) |
| Deleterious probability by DeFine | 0.9182 (Deleterious) |
| Entrez Gene ID | 3845 (NCBI Gene) |
|---|---|
| Official Gene Symbol | KRAS (GeneCards) |
| Number of variants in KRAS in this database | 20 (view all the variants) |
| Full name | KRAS proto-oncogene, GTPase |
| Band | 12p12.1 |
| Other IDs | Vega: OTTHUMG00000171193 OMIM: 190070 HGNC: HGNC:6407 Ensembl: ENSG00000133703 |
| Other names | NS, NS3, CFC2, RALD, K-Ras, KRAS1, KRAS2, RASK2, KI-RAS, C-K-RAS, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, c-Ki-ras2 |
| Summary | This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008] |
| Individual ID | 25808193.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 25808193 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Oculo ectodermal syndrome (view all the variants in this disease) |
| OMIM ID | 600268 |
| Pubmed ID | 25808193 |
|---|---|
| Title | Oculo ectodermal Syndrome is a Mosaic RASopathy Associated with KRAS Alterations |
| Journal | American Journal of Medical Genetics |
| Publication date | 2015.02 |
| Disease | Oculo ectodermal Syndrome |
| Number of cases | Male cases: 1; Female cases: 1; |