ClinVar

NM_020320.5(RARS2):c.1586+893T>A

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q15

Genomic location:

• Chr6: 87515913 (on Assembly GRCh38)
• Chr6: 88225631 (on Assembly GRCh37)

Preferred name:

NM_020320.5(RARS2):c.1586+893T>A

HGVS:

• NC_000006.12:g.87515913A>T
• NG_008601.1:g.79105T>A
• NM_001318785.2:c.1061+893T>A
• NM_001350505.2:c.1586+893T>A
• NM_001350506.2:c.1061+893T>A
• NM_001350507.2:c.1061+893T>A
• NM_001350508.2:c.1061+893T>A
• NM_001350509.2:c.1061+893T>A
• NM_001350510.2:c.1061+893T>A
• NM_001350511.2:c.1061+893T>A
• NM_020320.5:c.1586+893T>AMANE SELECT
• NC_000006.11:g.88225631A>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318785.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350505.2:c.1586+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350506.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350507.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350508.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350509.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350510.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001350511.2:c.1061+893T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020320.5:c.1586+893T>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

5