ClinVar

NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)

Gene:

HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140676725 (on Assembly GRCh38)
• Chr5: 140056310 (on Assembly GRCh37)

Preferred name:

NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys)

HGVS:

• NC_000005.10:g.140676725G>A
• NG_032158.1:g.19662C>T
• NM_001258040.3:c.1003C>T
• NM_001258041.3:c.1063C>T
• NM_001258042.3:c.943C>T
• NM_001289092.2:c.901C>T
• NM_001289093.2:c.781C>T
• NM_001289094.2:c.1036C>T
• NM_002109.3:c.1123C>T
• NM_002109.6:c.1123C>TMANE SELECT
• NP_001244969.1:p.Arg335Cys
• NP_001244970.1:p.Arg355Cys
• NP_001244971.1:p.Arg315Cys
• NP_001276021.1:p.Arg301Cys
• NP_001276022.1:p.Arg261Cys
• NP_001276023.1:p.Arg346Cys
• NP_002100.2:p.Arg375Cys
• LRG_1374t1:c.1123C>T
• LRG_1374:g.19662C>T
• LRG_1374p1:p.Arg375Cys
• NC_000005.9:g.140056310G>A
• NM_002109.5:c.1123C>T

This HGVS expression did not pass validation

Protein change:

R261C

Links:

dbSNP: rs774682373

NCBI 1000 Genomes Browser:

rs774682373

Molecular consequence:

• NM_001258040.3:c.1003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258041.3:c.1063C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258042.3:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289092.2:c.901C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289093.2:c.781C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289094.2:c.1036C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002109.6:c.1123C>T - missense variant - [Sequence Ontology: SO:0001583]