ClinVar

NM_002109.6(HARS1):c.90+16C>T

Genes:

LOC129994848:ATAC-STARR-seq lymphoblastoid active region 23285 [Gene]
HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140691199 (on Assembly GRCh38)
• Chr5: 140070784 (on Assembly GRCh37)

Preferred name:

NM_002109.6(HARS1):c.90+16C>T

HGVS:

• NC_000005.10:g.140691199G>A
• NG_021415.1:g.4767G>A
• NG_032158.1:g.5188C>T
• NM_001258040.3:c.90+16C>T
• NM_001258041.3:c.90+16C>T
• NM_001258042.3:c.90+16C>T
• NM_001289092.2:c.90+16C>T
• NM_001289093.2:c.90+16C>T
• NM_001289094.2:c.3+103C>T
• NM_002109.6:c.90+16C>TMANE SELECT
• LRG_1374t1:c.90+16C>T
• LRG_1374:g.5188C>T
• LRG_1376:g.4767G>A
• NC_000005.9:g.140070784G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs757866174

NCBI 1000 Genomes Browser:

rs757866174

Molecular consequence:

• NM_001258040.3:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258041.3:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001258042.3:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001289092.2:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001289093.2:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001289094.2:c.3+103C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002109.6:c.90+16C>T - intron variant - [Sequence Ontology: SO:0001627]