ClinVar

NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)

Gene:

KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.1

Genomic location:

• Chr16: 75635982 (on Assembly GRCh38)
• Chr16: 75669880 (on Assembly GRCh37)

Preferred name:

NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)

Other names:

KARS1, PRO228LEU (rs201650281)

HGVS:

• NC_000016.10:g.75635982G>A
• NG_028025.1:g.16706C>T
• NM_001130089.2:c.683C>T
• NM_001378148.1:c.131C>T
• NM_005548.3:c.599C>TMANE SELECT
• NP_001123561.1:p.Pro228Leu
• NP_001123561.1:p.Pro228Leu
• NP_001365077.1:p.Pro44Leu
• NP_005539.1:p.Pro200Leu
• NP_005539.1:p.Pro200Leu
• LRG_366t1:c.683C>T
• LRG_366:g.16706C>T
• LRG_366p1:p.Pro228Leu
• NC_000016.9:g.75669880G>A
• NM_001130089.1:c.683C>T
• NM_005548.2:c.599C>T
• p.Pro228Leu

This HGVS expression did not pass validation

Protein change:

P200L; PRO228LEU

Links:

OMIM: 601421.0009; dbSNP: rs201650281

NCBI 1000 Genomes Browser:

rs201650281

Molecular consequence:

• NM_001130089.2:c.683C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378148.1:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005548.3:c.599C>T - missense variant - [Sequence Ontology: SO:0001583]