ClinVar

NM_012123.4(MTO1):c.1044G>T (p.Gly348=)

Gene:

MTO1:mitochondrial tRNA translation optimization 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 73480041 (on Assembly GRCh38)
• Chr6: 74189764 (on Assembly GRCh37)

Preferred name:

NM_012123.4(MTO1):c.1044G>T (p.Gly348=)

HGVS:

• NC_000006.12:g.73480041G>T
• NG_032856.2:g.23311G>T
• NM_001123226.2:c.1044G>T
• NM_012123.4:c.1044G>TMANE SELECT
• NM_133645.3:c.1044G>T
• NP_001116698.1:p.Gly348=
• NP_036255.2:p.Gly348=
• NP_598400.1:p.Gly348=
• NC_000006.11:g.74189764G>T
• NG_032856.1:g.23311G>T
• NM_012123.3:c.1044G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs770890953

NCBI 1000 Genomes Browser:

rs770890953

Molecular consequence:

• NM_001123226.2:c.1044G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012123.4:c.1044G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133645.3:c.1044G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1