ClinVar

NM_015340.4(LARS2):c.1351C>T (p.Arg451Trp)

Genes:

LARS2-AS1:LARS2 antisense RNA 1 [Gene - HGNC]
LARS2:leucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 45491628 (on Assembly GRCh38)
• Chr3: 45533120 (on Assembly GRCh37)

Preferred name:

NM_015340.4(LARS2):c.1351C>T (p.Arg451Trp)

HGVS:

• NC_000003.12:g.45491628C>T
• NG_033907.3:g.108065C>T
• NM_001368263.1:c.1351C>T
• NM_015340.4:c.1351C>TMANE SELECT
• NP_001355192.1:p.Arg451Trp
• NP_056155.1:p.Arg451Trp
• LRG_1353t1:c.1351C>T
• LRG_1353:g.108065C>T
• LRG_1353p1:p.Arg451Trp
• NC_000003.11:g.45533120C>T
• NM_015340.3:c.1351C>T

This HGVS expression did not pass validation

Protein change:

R451W

Molecular consequence:

• NM_001368263.1:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015340.4:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]