Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Thr2507Ile (p.T2507I)
(
ENST00000687027.1,
ENST00000691014.1,
ENST00000356175.7,
ENST00000684826.1,
ENST00000696138.1,
ENST00000693617.1,
ENST00000358273.9 )
NF1 p.Thr2507Ile (p.T2507I) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile) AND not specified
- ClinVar Allele ID
- 151558
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.7457C>T
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.7520C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-12-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001818315
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs