ClinVar

NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11992690 (on Assembly GRCh38)
• Chr1: 12052747 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)

HGVS:

• NC_000001.11:g.11992690G>A
• NG_007945.1:g.17510G>A
• NM_001127660.2:c.311G>A
• NM_014874.4:c.311G>AMANE SELECT
• NP_001121132.1:p.Arg104Gln
• NP_055689.1:p.Arg104Gln
• NP_055689.1:p.Arg104Gln
• LRG_255t1:c.311G>A
• LRG_255:g.17510G>A
• LRG_255p1:p.Arg104Gln
• NC_000001.10:g.12052747G>A
• NM_014874.3:c.311G>A

This HGVS expression did not pass validation

Protein change:

R104Q

Links:

dbSNP: rs863224068

NCBI 1000 Genomes Browser:

rs863224068

Molecular consequence:

• NM_001127660.2:c.311G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.311G>A - missense variant - [Sequence Ontology: SO:0001583]