ClinVar

NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12002075 (on Assembly GRCh38)
• Chr1: 12062132 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)

HGVS:

• NC_000001.11:g.12002075T>C
• NG_007945.1:g.26895T>C
• NM_001127660.2:c.1132T>C
• NM_014874.4:c.1132T>CMANE SELECT
• NP_001121132.1:p.Ser378Pro
• NP_055689.1:p.Ser378Pro
• NP_055689.1:p.Ser378Pro
• LRG_255t1:c.1132T>C
• LRG_255:g.26895T>C
• LRG_255p1:p.Ser378Pro
• NC_000001.10:g.12062132T>C
• NM_014874.3:c.1132T>C

This HGVS expression did not pass validation

Protein change:

S378P

Links:

dbSNP: rs1569854381

NCBI 1000 Genomes Browser:

rs1569854381

Molecular consequence:

• NM_001127660.2:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.1132T>C - missense variant - [Sequence Ontology: SO:0001583]