ClinVar Genomic variation as it relates to human health
NC_000015.10:g.(?_48410990)_(48644769_?)del
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
FBN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
7496 | 7828 | |
LOC113939944 | - | - | - | GRCh38 | - | 129 |
LOC125078076 | - | - | - | GRCh38 | - | 6 |
LOC126862124 | - | - | - | GRCh38 | - | 130 |
LOC126862125 | - | - | - | GRCh38 | - | 8 |
LOC130057018 | - | - | - | GRCh38 | - | 7 |
LOC130057019 | - | - | - | GRCh38 | - | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 3, 2014 | RCV004018317.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024