| 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 (#0064414) |
| Patient ID |
UAB-SPR461 |
| Disease |
Neurofibromatosis type 1 |
| Phenotype additional |
19-yo man with 8 CALMs and 2 neurofibromas, also carries NF1 mutation c.5944-2A>G . Both inherited from affected parent! Not clear if SPRED1 makes any contribution. |
| Remarks |
- |
| Ref_pat-pheno |
Messiaen UAB, unpublished |
| Inherit |
germline (inherited) |
| Consang. |
- |
| Fam_Pat |
- |
| # Reported |
1 |
| Geographic origin |
- |
| Ethnic origin |
- |
| Gender |
M |
| Phenotype/Onset |
- |
| Histology |
- |
| Submitter |
Ludwine Messiaen |
| Variant data |
| Allele |
Unknown |
| Reported pathogenicity |
Unknown |
| Concluded pathogenicity |
Unknown |
| Exon |
3 |
| DNA change |
c.270C>G (View in UCSC Genome Browser, Ensembl) |
| RNA change |
r.(270c>g) |
| Protein |
p.(His90Gln) |
| Domains |
EVH-1 |
| Type |
substitution |
| Variant predicted effect |
missense |
| Genetic origin |
familial |
| Technique |
gDNA SEQ |
| Tissue |
blood |
| Template |
DNA |
| DB-ID |
SPRED1_00143 |
| Reference |
Messiaen UAB, unpublished novel mutation |
| Variant remarks |
- |
| do not use |
familial |
| Evol cons in C. jacchus |
yes |
| Evol cons in M. musculus |
yes |
| Evol cons in R. norvegicus |
yes |
| Evol cons in B. taurus |
yes |
| Evol cons in O. cuniculus |
yes |
| Evol cons in X. tropicalis |
yes |
| Evol cons in D. rerio |
yes |
| Evol cons in D. melanogaster |
yes |
| PC12 functional assay |
not available |
| ELK1 functional assay |
not available |
|
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