ClinVar

NM_014874.4(MFN2):c.193G>T (p.Glu65Ter)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11992572 (on Assembly GRCh38)
• Chr1: 12052629 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.193G>T (p.Glu65Ter)

HGVS:

• NC_000001.11:g.11992572G>T
• NG_007945.1:g.17392G>T
• NM_001127660.2:c.193G>T
• NM_014874.4:c.193G>TMANE SELECT
• NP_001121132.1:p.Glu65Ter
• NP_055689.1:p.Glu65Ter
• NP_055689.1:p.Glu65Ter
• LRG_255t1:c.193G>T
• LRG_255:g.17392G>T
• LRG_255p1:p.Glu65Ter
• NC_000001.10:g.12052629G>T
• NM_014874.3:c.193G>T

This HGVS expression did not pass validation

Protein change:

E65*

Links:

dbSNP: rs1415276772

NCBI 1000 Genomes Browser:

rs1415276772

Molecular consequence:

• NM_001127660.2:c.193G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_014874.4:c.193G>T - nonsense - [Sequence Ontology: SO:0001587]