ClinVar

NM_020320.5(RARS2):c.1586+16C>T

Gene:

RARS2:arginyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q15

Genomic location:

• Chr6: 87516790 (on Assembly GRCh38)
• Chr6: 88226508 (on Assembly GRCh37)

Preferred name:

NM_020320.5(RARS2):c.1586+16C>T

HGVS:

• NC_000006.12:g.87516790G>A
• NG_008601.1:g.78228C>T
• NM_001318785.2:c.1061+16C>T
• NM_001350505.2:c.1586+16C>T
• NM_001350506.2:c.1061+16C>T
• NM_001350507.2:c.1061+16C>T
• NM_001350508.2:c.1061+16C>T
• NM_001350509.2:c.1061+16C>T
• NM_001350510.2:c.1061+16C>T
• NM_001350511.2:c.1061+16C>T
• NM_020320.5:c.1586+16C>TMANE SELECT
• NC_000006.11:g.88226508G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318785.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350505.2:c.1586+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350506.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350507.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350508.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350509.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350510.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350511.2:c.1061+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_020320.5:c.1586+16C>T - intron variant - [Sequence Ontology: SO:0001627]