ClinVar

NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)

Gene:

MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

• Chr20: 17975704 (on Assembly GRCh38)
• Chr20: 17956347 (on Assembly GRCh37)

Preferred name:

NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)

HGVS:

• NC_000020.11:g.17975704C>T
• NG_042236.1:g.11814C>T
• NM_001310338.2:c.577C>T
• NM_001310339.2:c.511+5334C>T
• NM_001363738.2:c.292C>T
• NM_052865.4:c.532C>TMANE SELECT
• NP_001297267.1:p.Arg193Trp
• NP_001350667.1:p.Arg98Trp
• NP_443097.1:p.Arg178Trp
• NC_000020.10:g.17956347C>T
• NM_052865.2:c.532C>T
• NM_052865.3:c.532C>T

This HGVS expression did not pass validation

Protein change:

R178W

Links:

dbSNP: rs143417446

NCBI 1000 Genomes Browser:

rs143417446

Molecular consequence:

• NM_001310339.2:c.511+5334C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001310338.2:c.577C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363738.2:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052865.4:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]