ClinVar

NM_014874.4(MFN2):c.928C>T (p.Leu310Phe)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12001512 (on Assembly GRCh38)
• Chr1: 12061569 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.928C>T (p.Leu310Phe)

HGVS:

• NC_000001.11:g.12001512C>T
• NG_007945.1:g.26332C>T
• NM_001127660.2:c.928C>T
• NM_014874.4:c.928C>TMANE SELECT
• NP_001121132.1:p.Leu310Phe
• NP_055689.1:p.Leu310Phe
• LRG_255:g.26332C>T
• NC_000001.10:g.12061569C>T

This HGVS expression did not pass validation

Protein change:

L310F

Links:

dbSNP: rs1044699189

NCBI 1000 Genomes Browser:

rs1044699189

Molecular consequence:

• NM_001127660.2:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.928C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1