Annotation Detail
Information
- Associated Genes
- CASP8 FLACC1
- Associated Variants
-
FLACC1 p.Thr397= (p.T397=)
(
ENST00000696069.1,
ENST00000286190.9,
ENST00000392257.8,
ENST00000405148.6,
ENST00000439709.5 )
FLACC1 p.Thr397= (p.T397=) ( ENST00000696069.1, ENST00000286190.9, ENST00000392257.8, ENST00000405148.6, ENST00000439709.5 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001127391.3(FLACC1):c.1122G>A (p.Thr374=) AND not specified
- ClinVar Allele ID
- 389475
- ClinVar RefSeq Alternation Syntax
- NR_110620.2:n.1699G>A
- ClinVar RefSeq Alternation Syntax
- NM_001289993.2:c.1122G>A
- ClinVar RefSeq Alternation Syntax
- NM_139163.4:c.1191G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127391.3:c.1122G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-03-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000455346
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs