Annotation Detail

Information
Associated Genes
NF1
Associated Variants
NF1 p.Gly629Arg (p.G629R) ( ENST00000358273.9, ENST00000356175.7, ENST00000691014.1, ENST00000696138.1 )
NF1 p.Gly629Arg (p.G629R) ( ENST00000356175.7, ENST00000358273.9, ENST00000691014.1, ENST00000696138.1 )
Associated Disease
Neurofibromatosis, type 1
Source Database
ClinVar
Description
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg) AND multiple conditions
ClinVar Allele ID
79199
ClinVar RefSeq Alternation Syntax
NM_001042492.3:c.1885G>A
ClinVar RefSeq Alternation Syntax
NM_000267.3:c.1885G>A
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2018-11-10
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001009575
ClinVar Disease
Neurofibromatosis, type 1
Observed Origin Sample
maternal
Drugs