ClinVar

NM_001136035.4(TRMT1):c.1053C>T (p.Cys351=)

Gene:

TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13109968 (on Assembly GRCh38)
• Chr19: 13220782 (on Assembly GRCh37)

Preferred name:

NM_001136035.4(TRMT1):c.1053C>T (p.Cys351=)

HGVS:

• NC_000019.10:g.13109968G>A
• NG_054900.1:g.12600C>T
• NG_140487.1:g.418G>A
• NM_001136035.4:c.1053C>TMANE SELECT
• NM_001142554.3:c.1020-130C>T
• NM_001351760.2:c.1020-130C>T
• NM_001351761.2:c.945C>T
• NM_001351762.2:c.270C>T
• NM_017722.5:c.1053C>T
• NP_001129507.1:p.Cys351=
• NP_001338690.1:p.Cys315=
• NP_001338691.1:p.Cys90=
• NP_060192.1:p.Cys351=
• NC_000019.9:g.13220782G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001142554.3:c.1020-130C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351760.2:c.1020-130C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001136035.4:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351761.2:c.945C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351762.2:c.270C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017722.5:c.1053C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1