ClinVar

NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.2

Genomic location:

• Chr8: 24955723 (on Assembly GRCh38)
• Chr8: 24813237 (on Assembly GRCh37)

Preferred name:

NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)

HGVS:

• NC_000008.11:g.24955723A>C
• NG_008492.1:g.5895T>G
• NM_006158.5:c.793T>GMANE SELECT
• NP_006149.2:p.Tyr265Asp
• NP_006149.2:p.Tyr265Asp
• LRG_259t1:c.793T>G
• LRG_259:g.5895T>G
• LRG_259p1:p.Tyr265Asp
• NC_000008.10:g.24813237A>C
• NM_006158.3:c.793T>G
• NM_006158.4:c.793T>G

This HGVS expression did not pass validation

Protein change:

Y265D

Links:

dbSNP: rs1554497573

NCBI 1000 Genomes Browser:

rs1554497573

Molecular consequence:

• NM_006158.5:c.793T>G - missense variant - [Sequence Ontology: SO:0001583]