ClinVar

NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12009641 (on Assembly GRCh38)
• Chr1: 12069698 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)

Other names:

p.R707W:CGG>TGG; NM_001127660.1(MFN2):c.2119C>T(p.Arg707Trp); NM_014874.3(MFN2):c.2119C>T(p.Arg707Trp)

HGVS:

• NC_000001.11:g.12009641C>T
• NG_007945.1:g.34461C>T
• NM_001127660.1:c.2119C>T
• NM_001127660.2:c.2119C>T
• NM_014874.4:c.2119C>TMANE SELECT
• NP_001121132.1:p.Arg707Trp
• NP_055689.1:p.Arg707Trp
• NP_055689.1:p.Arg707Trp
• LRG_255t1:c.2119C>T
• LRG_255:g.34461C>T
• LRG_255p1:p.Arg707Trp
• NC_000001.10:g.12069698C>T
• NM_014874.3:c.2119C>T
• NM_014874.4:c.2119C>T
• p.Arg707Trp

This HGVS expression did not pass validation

Protein change:

R707W; ARG707TRP

Links:

OMIM: 608507.0013; dbSNP: rs119103267

NCBI 1000 Genomes Browser:

rs119103267

Molecular consequence:

• NM_001127660.2:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.2119C>T - missense variant - [Sequence Ontology: SO:0001583]