| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.IVS18-1G>C (c.2203-1G>C) | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GGG | Gly | spl-1 | Spl. | G->C | Tv |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| Impact on splicing | ||||||||||
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| acctgactccagGG |
| acctgactccacGG |
| -32.8 % | ||||||
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| BIC10104 | Proband | Female | U.S.A. |
| Phenotypic group | Disease |
| Reference ID | PubMed ID | Reference |
| 14 | 28496993 | Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP. Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J Pediatr Genet. 2017 Jun;6(2):61-76. doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28. PubMed PMID: 28496993; PubMed Central PMCID: PMC5423809. |