ClinVar Genomic variation as it relates to human health
NM_005651.4(TDO2):c.685A>C (p.Asn229His)
Germline
Classification
(1)
Benign
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 | |||
TDO2 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 65 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TDO2-related disorder
|
Benign (1) |
|
Jul 30, 2019 | RCV003984795.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024