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| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0000889) |
| Patient ID |
- |
| Disease |
- |
| Reference/Submitter |
[16932809] , United Kingdom (Great Britain):Edinburgh |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
Additional info kindly supplied by D. Kelberman |
| # Reported |
1 |
| Population |
- |
| Gender |
- |
| Sequence Inheritance |
- |
| Phenotype Inheritance |
- |
| Second PCR |
- |
| CIS |
- |
| Conserved residue |
- |
| Related Phenotype |
- |
| Unrelated Phenotype |
- |
| Submitter |
Isabel Hanson |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
No known pathogenicity |
| Exon |
01 |
| Legacy DNA ID |
- |
| DNA change |
c.561T>C |
| RNA change |
- |
| Protein change |
p.(=) |
| RNA information |
Asn (aau) > Asn (aac) predicted |
| Protein information |
No effect predicted |
| DB-ID |
SOX2_00044 |
| Location |
Exon |
| Base number |
561 |
| 5' Sequence Context |
CCTCAA |
| Original Sequence |
T |
| Variant Sequence |
C |
| 3' Sequence Context |
GCGCAC |
| Type |
Substitution |
| Domain |
CTD |
| Detection Method |
Direct Sequencing |
| RE Site |
- |
| Frequency |
- |
| Remarks |
Presumed neutral variant |
|
