Annotation Detail
Information
- Associated Genes
- FANCG VCP
- Associated Variants
-
FANCG p.Thr297Ile (p.T297I)
(
ENST00000696710.1,
ENST00000696715.1,
ENST00000378643.8,
ENST00000448890.2 )
FANCG p.Thr297Ile (p.T297I) ( ENST00000378643.8, ENST00000448890.2, ENST00000696710.1, ENST00000696715.1 ) - Associated Disease
- Amyotrophic Lateral Sclerosis, Dominant
- Source Database
- ClinVar
- Description
- NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) AND Amyotrophic Lateral Sclerosis, Dominant
- ClinVar Allele ID
- 138106
- ClinVar RefSeq Alternation Syntax
- NM_004629.2:c.890C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000377286
- ClinVar Disease
- Amyotrophic Lateral Sclerosis, Dominant
- Observed Origin Sample
- germline
Drugs