ClinVar

NM_014874.4(MFN2):c.2070-20C>T

Gene:

MFN2:mitofusin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 12009572 (on Assembly GRCh38)
• Chr1: 12069629 (on Assembly GRCh37)

Preferred name:

NM_014874.4(MFN2):c.2070-20C>T

HGVS:

• NC_000001.11:g.12009572C>T
• NG_007945.1:g.34392C>T
• NM_001127660.2:c.2070-20C>T
• NM_014874.4:c.2070-20C>TMANE SELECT
• LRG_255:g.34392C>T
• NC_000001.10:g.12069629C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs776626503

NCBI 1000 Genomes Browser:

rs776626503

Molecular consequence:

• NM_001127660.2:c.2070-20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_014874.4:c.2070-20C>T - intron variant - [Sequence Ontology: SO:0001627]