ClinVar

NM_002047.4(GARS1):c.90C>T (p.Leu30=)

Gene:

GARS1:glycyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p14.3

Genomic location:

• Chr7: 30595011 (on Assembly GRCh38)
• Chr7: 30634627 (on Assembly GRCh37)

Preferred name:

NM_002047.4(GARS1):c.90C>T (p.Leu30=)

HGVS:

• NC_000007.14:g.30595011C>T
• NG_007942.1:g.5447C>T
• NM_001316772.1:c.-73C>T
• NM_002047.4:c.90C>TMANE SELECT
• NP_002038.2:p.Leu30=
• LRG_243t1:c.90C>T
• LRG_243:g.5447C>T
• NC_000007.13:g.30634627C>T
• NM_002047.2:c.90C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1057519166

NCBI 1000 Genomes Browser:

rs1057519166

Molecular consequence:

• NM_001316772.1:c.-73C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_002047.4:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1