ClinVar

NM_015836.4(WARS2):c.938A>T (p.Lys313Met)

Gene:

WARS2:tryptophanyl tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p12

Genomic location:

• Chr1: 119033056 (on Assembly GRCh38)
• Chr1: 119575679 (on Assembly GRCh37)

Preferred name:

NM_015836.4(WARS2):c.938A>T (p.Lys313Met)

HGVS:

• NC_000001.11:g.119033056T>A
• NG_050658.1:g.112733A>T
• NM_001378226.1:c.869A>T
• NM_001378227.1:c.869A>T
• NM_001378228.1:c.767A>T
• NM_001378229.1:c.680A>T
• NM_001378230.1:c.656A>T
• NM_001378231.1:c.*273A>T
• NM_015836.4:c.938A>TMANE SELECT
• NM_201263.2:c.*304A>T
• NP_001365155.1:p.Lys290Met
• NP_001365156.1:p.Lys290Met
• NP_001365157.1:p.Lys256Met
• NP_001365158.1:p.Lys227Met
• NP_001365159.1:p.Lys219Met
• NP_056651.1:p.Lys313Met
• NP_056651.1:p.Lys313Met
• NC_000001.10:g.119575679T>A
• NM_015836.3:c.938A>T

This HGVS expression did not pass validation

Protein change:

K219M; LYS313MET

Links:

OMIM: 604733.0003; dbSNP: rs145867327

NCBI 1000 Genomes Browser:

rs145867327

Molecular consequence:

• NM_001378231.1:c.*273A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_201263.2:c.*304A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001378226.1:c.869A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378227.1:c.869A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378228.1:c.767A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378229.1:c.680A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378230.1:c.656A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015836.4:c.938A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2