ClinVar

NM_014874.4(MFN2):c.899G>A (p.Arg300His)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12001483 (on Assembly GRCh38)
• Chr1: 12061540 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.899G>A (p.Arg300His)

HGVS:

• NC_000001.11:g.12001483G>A
• NG_007945.1:g.26303G>A
• NM_001127660.2:c.899G>A
• NM_014874.4:c.899G>AMANE SELECT
• NP_001121132.1:p.Arg300His
• NP_055689.1:p.Arg300His
• LRG_255t1:c.899G>A
• LRG_255:g.26303G>A
• NC_000001.10:g.12061540G>A
• NM_014874.3:c.899G>A

This HGVS expression did not pass validation

Protein change:

R300H

Links:

dbSNP: rs1226075443

NCBI 1000 Genomes Browser:

rs1226075443

Molecular consequence:

• NM_001127660.2:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.899G>A - missense variant - [Sequence Ontology: SO:0001583]