ClinVar Genomic variation as it relates to human health
NM_000140.5(FECH):c.40del (p.Ala14fs)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
FECH | - | - |
GRCh38 GRCh37 |
313 | 410 | |
LOC130062560 | - | - | - | GRCh38 | - | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 21, 2023 | RCV002472163.2 | |
Pathogenic (1) |
|
Oct 10, 2023 | RCV002571480.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2024