Annotation Detail

Information
Associated Genes
NEFL
Associated Variants
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 )
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_006158.5(NEFL):c.995A>C (p.Gln332Pro) AND not provided
ClinVar Allele ID
29067
ClinVar RefSeq Alternation Syntax
NM_006158.5:c.995A>C
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000057151
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs