ClinVar

NM_014874.4(MFN2):c.707C>T (p.Thr236Met)

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11998877 (on Assembly GRCh38)
• Chr1: 12058934 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.707C>T (p.Thr236Met)

HGVS:

• NC_000001.11:g.11998877C>T
• NG_007945.1:g.23697C>T
• NM_001127660.2:c.707C>T
• NM_014874.4:c.707C>TMANE SELECT
• NP_001121132.1:p.Thr236Met
• NP_001121132.1:p.Thr236Met
• NP_055689.1:p.Thr236Met
• NP_055689.1:p.Thr236Met
• LRG_255t1:c.707C>T
• LRG_255:g.23697C>T
• LRG_255p1:p.Thr236Met
• NC_000001.10:g.12058934C>T
• NM_001127660.1:c.707C>T
• NM_014874.3:c.707C>T

This HGVS expression did not pass validation

Protein change:

T236M

Links:

dbSNP: rs773159585

NCBI 1000 Genomes Browser:

rs773159585

Molecular consequence:

• NM_001127660.2:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014874.4:c.707C>T - missense variant - [Sequence Ontology: SO:0001583]