| 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 (#0019155) |
| Phenotype |
CNCM |
| Phenotype additional |
2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth |
| Reference |
Jones 2003, Australia:Sydney |
| Remarks |
sister of 19026398-V.2 |
| Geographic origin |
Egypt |
| Ethnic origin |
- |
| Gender |
F |
| Inheritance |
sporadic, consanguineous parents (1st degree), sporadic, consanguineous par |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Monkol Lek |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
8 |
| Genet_ori |
germline (inherited) |
| DNA change |
c.871dupT (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.871dup |
| Protein change |
p.Ser291Phefs*6 |
| DB-ID |
CNTN1_00001 |
| Variant remarks |
mapped by linkage; not in 242 control chromosomes |
| Reference |
Compton 2008, (OMIM 0001) |
| Template |
DNA, RNA |
| Technique |
RT-PCR, SEQ |
| Frequency |
- |
| RE-site |
- |
|
