ClinVar

NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12002021 (on Assembly GRCh38)
• Chr1: 12062078 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.1078C>G (p.Gln360Glu)

HGVS:

• NC_000001.11:g.12002021C>G
• NG_007945.1:g.26841C>G
• NM_001127660.2:c.1078C>G
• NM_014874.4:c.1078C>GMANE SELECT
• NP_001121132.1:p.Gln360Glu
• NP_001121132.1:p.Gln360Glu
• NP_055689.1:p.Gln360Glu
• NP_055689.1:p.Gln360Glu
• LRG_255t1:c.1078C>G
• LRG_255:g.26841C>G
• LRG_255p1:p.Gln360Glu
• NC_000001.10:g.12062078C>G
• NM_001127660.1:c.1078C>G
• NM_014874.3:c.1078C>G

This HGVS expression did not pass validation

Protein change:

Q360E

Links:

dbSNP: rs1064795818

NCBI 1000 Genomes Browser:

rs1064795818

Molecular consequence:

• NM_001127660.2:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.1078C>G - missense variant - [Sequence Ontology: SO:0001583]