ClinVar Genomic variation as it relates to human health
NM_001953.5(TYMP):c.1078del (p.Leu360fs)
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 | |||
LOC130067862 | - | - | - | GRCh38 | - | 488 |
SCO2 | - | - |
GRCh38 GRCh37 |
4 | 881 | |
TYMP | - | - |
GRCh38 GRCh37 |
458 | 1104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 14, 2023 | RCV003692392.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024