ClinVar Genomic variation as it relates to human health
NM_000116.5(TAZ):c.-119=
Germline
Classification
(4)
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 | |||
DNASE1L1 | - | - |
GRCh38 GRCh37 |
11 | 313 | |
LOC130068869 | - | - | - | GRCh38 | - | 156 |
TAFAZZIN | - | - |
GRCh38 GRCh37 |
407 | 708 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jun 14, 2016 | RCV000275048.14 | |
Benign (1) |
|
Jun 14, 2016 | RCV000375201.14 | |
Benign (1) |
|
Jun 14, 2016 | RCV000367327.14 | |
Benign (1) |
|
Jun 14, 2016 | RCV000318438.14 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024
In GRCh38, and more recent versions of the NM_000116, this T is not represented. In other words, the absence of T is the reference state.