| Variant ID | 30469 |
|---|---|
| Entrez Gene ID | 3845 |
| Gene | KRAS (GeneCards) |
| Location | hg19 12:25378562-25378562
hg38 12:25225628-25225628 |
| Disease | Oculo ectodermal syndrome (view all the variants in this disease) |
| Method | Sanger |
| Mutation(HGVS format) | NC_000012.11:g.25378562 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 4 |
| Position in protein | 146 |
| Amino acid changes in protein | A > T |
| Position in cDNA | 436 |
| Changes in cDNA | G > A |
| mRNA accession | NM_004985.3 |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs121913527 |
| Variant IDs in COSMIC (version 89) | 19404 |
| Variant occurences in COSMIC | 2(stomach)|10(haematopoietic_and_lymphoid_tissue)|2(pancreas)|1(peritoneum)|1(genital_tract)|1(skin)|41(large_intestine)|4(biliary_tract) |
| EIGEN score | 1.0208 |
| CADD Raw score (version 1.3) | 7.289465 (Deleterious) |
| FATHMM raw prediction score | 0.99549 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.28 (Deleterious) |
| PROVEAN score | -3.63 (Deleterious) |
| MetaSVM score | 1.008 (Deleterious) |
| MetaLR score | 0.89 (Deleterious) |
| MCAP score | 0.333 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.891 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.785 |
| Deleterious probability by iFish2 | 0.9855 (Deleterious) |
| Deleterious probability by DeFine | 0.9664 (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 | 26970110.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 26970110 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Oculo ectodermal syndrome (view all the variants in this disease) |
| OMIM ID | 600268 |
| Pubmed ID | 26970110 |
|---|---|
| Title | Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis |
| Journal | Clinical Genetics |
| Publication date | 2016.03 |
| Disease | Oculoectodermal syndrome and encephalocraniocutaneous lipomatosis |
| Number of cases | cases of unknown sex: 4; |