ClinVar

NM_018006.5(TRMU):c.679A>C (p.Arg227=)

Gene:

TRMU:tRNA mitochondrial 2-thiouridylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

• Chr22: 46352148 (on Assembly GRCh38)
• Chr22: 46748045 (on Assembly GRCh37)

Preferred name:

NM_018006.5(TRMU):c.679A>C (p.Arg227=)

HGVS:

• NC_000022.11:g.46352148A>C
• NG_012173.1:g.21748A>C
• NM_001282782.2:c.337A>C
• NM_001282783.2:c.259A>C
• NM_001282784.2:c.259A>C
• NM_001282785.2:c.679A>C
• NM_018006.5:c.679A>CMANE SELECT
• NP_001269711.1:p.Arg113=
• NP_001269712.1:p.Arg87=
• NP_001269713.1:p.Arg87=
• NP_001269714.1:p.Arg227=
• NP_060476.2:p.Arg227=
• NC_000022.10:g.46748045A>C
• NR_104240.2:n.675A>C
• NR_104241.2:n.568A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs760970848

NCBI 1000 Genomes Browser:

rs760970848

Molecular consequence:

• NR_104240.2:n.675A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104241.2:n.568A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001282782.2:c.337A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282783.2:c.259A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282784.2:c.259A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282785.2:c.679A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_018006.5:c.679A>C - synonymous variant - [Sequence Ontology: SO:0001819]