ClinVar

NM_001136035.4(TRMT1):c.1032G>C (p.Leu344=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13109989 (on Assembly GRCh38)
• Chr19: 13220803 (on Assembly GRCh37)

Preferred name:

NM_001136035.4(TRMT1):c.1032G>C (p.Leu344=)

HGVS:

• NC_000019.10:g.13109989C>G
• NG_054900.1:g.12579G>C
• NM_001136035.4:c.1032G>CMANE SELECT
• NM_001142554.3:c.1020-151G>C
• NM_001351760.2:c.1020-151G>C
• NM_001351761.2:c.924G>C
• NM_001351762.2:c.249G>C
• NM_017722.5:c.1032G>C
• NP_001129507.1:p.Leu344=
• NP_001338690.1:p.Leu308=
• NP_001338691.1:p.Leu83=
• NP_060192.1:p.Leu344=
• NC_000019.9:g.13220803C>G
• NM_001136035.2:c.1032G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs140145761

NCBI 1000 Genomes Browser:

rs140145761

Molecular consequence:

• NM_001142554.3:c.1020-151G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351760.2:c.1020-151G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001136035.4:c.1032G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351761.2:c.924G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001351762.2:c.249G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_017722.5:c.1032G>C - synonymous variant - [Sequence Ontology: SO:0001819]