Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 p.Arg1830Cys (p.R1830C)
(
ENST00000358273.9,
ENST00000356175.7,
ENST00000684826.1,
ENST00000687027.1,
ENST00000691014.1,
ENST00000693617.1,
ENST00000696138.1 )
NF1 p.Arg1830Cys (p.R1830C) ( ENST00000356175.7, ENST00000358273.9, ENST00000684826.1, ENST00000687027.1, ENST00000691014.1, ENST00000693617.1, ENST00000696138.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND not provided
- ClinVar Allele ID
- 205416
- ClinVar RefSeq Alternation Syntax
- NM_001042492.3:c.5488C>T
- ClinVar RefSeq Alternation Syntax
- NM_000267.3:c.5425C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000439869
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs