Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Ile1605Val (p.I1605V)
(
ENST00000358273.9,
ENST00000696138.1,
ENST00000356175.7,
ENST00000691014.1 )
NF1 p.Ile1605Val (p.I1605V) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) AND not specified
- ClinVar Allele ID
- 79245
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.4813A>G
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.4750A>G
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001727558
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs