Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1250Pro (p.R1250P)
(
ENST00000691014.1,
ENST00000356175.7,
ENST00000696138.1,
ENST00000358273.9 )
NF1 p.Arg1250Pro (p.R1250P) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.3749G>C (p.Arg1250Pro) AND not provided
- ClinVar Allele ID
- 79230
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.3749G>C
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.3749G>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000059191
- ClinVar Disease
- not provided
- Observed Origin Sample
- not provided
Drugs