ClinVar

NM_020117.11(LARS1):c.3192+217T>G

Gene:

LARS1:leucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

• Chr5: 146122275 (on Assembly GRCh38)
• Chr5: 145501838 (on Assembly GRCh37)

Preferred name:

NM_020117.11(LARS1):c.3192+217T>G

HGVS:

• NC_000005.10:g.146122275A>C
• NG_042294.1:g.65457T>G
• NM_001317964.2:c.3054+217T>G
• NM_001317965.2:c.3030+217T>G
• NM_016460.4:c.3111+217T>G
• NM_020117.11:c.3192+217T>GMANE SELECT
• NC_000005.9:g.145501838A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs147044022

NCBI 1000 Genomes Browser:

rs147044022

Molecular consequence:

• NM_001317964.2:c.3054+217T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001317965.2:c.3030+217T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_016460.4:c.3111+217T>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_020117.11:c.3192+217T>G - intron variant - [Sequence Ontology: SO:0001627]