ClinVar Genomic variation as it relates to human health
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer)
Germline
Classification
(3)
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 | |||
TRDN | - | - |
GRCh38 GRCh37 |
1199 | 1276 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 10, 2017 | RCV000519867.1 | |
Pathogenic (1) |
|
Nov 22, 2023 | RCV003525916.1 | |
Pathogenic (1) |
|
Sep 16, 2021 | RCV003985018.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs752256846 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Apr 06, 2024
NCBI staff established an HGVS expression for this deletion from the trace in Figure 2 of the paper by Altmann et al., 2015 (PubMed 25922419).