Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Leu216Pro (p.L216P)
(
ENST00000490416.2,
ENST00000487476.5,
ENST00000431387.8,
ENST00000356175.7,
ENST00000691014.1,
ENST00000358273.9,
ENST00000696138.1 )
NF1 p.Leu216Pro (p.L216P) ( ENST00000356175.7, ENST00000358273.9, ENST00000431387.8, ENST00000487476.5, ENST00000490416.2, ENST00000691014.1, ENST00000696138.1 ) - Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) AND Abnormality of the skin
- ClinVar Allele ID
- 79251
- ClinVar RefSeq Alternation Syntax
- NM_001128147.3:c.647T>C
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.647T>C
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.647T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001814043
- Observed Origin Sample
- germline
Drugs