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NOTE: for testing purposes only, database under construction !.
| 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 (#0000011) |
| Disease |
ASAT |
| Phenotype additional |
- |
| Remarks |
3-generation family, 4 affected males 9 carrier females |
| Reference |
Pagan 1985 |
| Geographic origin |
US |
| Ethnic origin |
European American |
| Inheritance |
familial |
| Consang. |
- |
| Age_exam |
- |
| Age_onset |
- |
| MR |
- |
| # Reported |
4 |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
09 |
| DNA change |
c.1203T>G (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
1200T>G, I400M |
| RNA change |
r.(?) |
| Protein |
p.Ile401Met |
| DB-ID |
ABCB7_00001 |
| Variant remarks |
- |
| Frequency |
- |
| Reference |
(OMIM 0001), Allikmets 1999 |
| Template |
DNA |
| do not use |
SSCA;SEQ |
| Re-site |
- |
| Genetic origin |
- |
NOTE: for testing purposes only, database under construction !.
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