ClinVar

NM_001136035.4(TRMT1):c.1515A>T (p.Glu505Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13107642 (on Assembly GRCh38)
• Chr19: 13218456 (on Assembly GRCh37)

Preferred name:

NM_001136035.4(TRMT1):c.1515A>T (p.Glu505Asp)

HGVS:

• NC_000019.10:g.13107642T>A
• NG_027756.2:g.519A>T
• NG_054900.1:g.14926A>T
• NM_001136035.4:c.1515A>TMANE SELECT
• NM_001142554.3:c.1428A>T
• NM_001351760.2:c.1428A>T
• NM_001351761.2:c.1407A>T
• NM_001351762.2:c.732A>T
• NM_017722.5:c.1515A>T
• NP_001129507.1:p.Glu505Asp
• NP_001136026.1:p.Glu476Asp
• NP_001338689.1:p.Glu476Asp
• NP_001338690.1:p.Glu469Asp
• NP_001338691.1:p.Glu244Asp
• NP_060192.1:p.Glu505Asp
• NC_000019.9:g.13218456T>A
• NM_001136035.2:c.1515A>T

This HGVS expression did not pass validation

Protein change:

E244D

Links:

dbSNP: rs114542979

NCBI 1000 Genomes Browser:

rs114542979

Molecular consequence:

• NM_001136035.4:c.1515A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001142554.3:c.1428A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351760.2:c.1428A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351761.2:c.1407A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001351762.2:c.732A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017722.5:c.1515A>T - missense variant - [Sequence Ontology: SO:0001583]