ClinVar

NM_006158.5(NEFL):c.803T>G (p.Leu268Arg)

Gene:

NEFL:neurofilament light chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 24955713 (on Assembly GRCh38)
• Chr8: 24813227 (on Assembly GRCh37)

Preferred name:

NM_006158.5(NEFL):c.803T>G (p.Leu268Arg)

HGVS:

• NC_000008.11:g.24955713A>C
• NG_008492.1:g.5905T>G
• NM_006158.5:c.803T>GMANE SELECT
• NP_006149.2:p.Leu268Arg
• NP_006149.2:p.Leu268Arg
• LRG_259t1:c.803T>G
• LRG_259:g.5905T>G
• LRG_259p1:p.Leu268Arg
• NC_000008.10:g.24813227A>C
• NM_006158.4:c.803T>G

This HGVS expression did not pass validation

Protein change:

L268R

Links:

dbSNP: rs62636502

NCBI 1000 Genomes Browser:

rs62636502

Molecular consequence:

• NM_006158.5:c.803T>G - missense variant - [Sequence Ontology: SO:0001583]