ClinVar

NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11999055 (on Assembly GRCh38)
• Chr1: 12059112 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)

HGVS:

• NC_000001.11:g.11999055G>T
• NG_007945.1:g.23875G>T
• NM_001127660.2:c.776G>T
• NM_014874.4:c.776G>TMANE SELECT
• NP_001121132.1:p.Arg259Leu
• NP_055689.1:p.Arg259Leu
• NP_055689.1:p.Arg259Leu
• LRG_255t1:c.776G>T
• LRG_255:g.23875G>T
• LRG_255p1:p.Arg259Leu
• NC_000001.10:g.12059112G>T
• NM_014874.3:c.776G>T

This HGVS expression did not pass validation

Protein change:

R259L

Links:

dbSNP: rs755065651

NCBI 1000 Genomes Browser:

rs755065651

Molecular consequence:

• NM_001127660.2:c.776G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.776G>T - missense variant - [Sequence Ontology: SO:0001583]