RARS2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RARS2 (HGNC:21406) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- arginyl-tRNA synthetase 2, mitochondrial
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RARSL
- Alias symbols
- MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2
- %HI
- 21.71(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.89(Read more about gnomAD LOEUF score)
- Cytoband
- 6q15
- Genomic Coordinates
-
GRCh37/hg19: chr6:88223656-88299705 NCBI Ensembl UCSC GRCh38/hg38: chr6:87513938-87589987 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020320.5 ENST00000369536.10 (Read more about MANE Select)
- Function
- Catalyzes the attachment of arginine to tRNA(Arg) in a two- step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg). {ECO:0000269|PubMed:17847012}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-36596
ClinGen Curation ID:
CCID:007752
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
04/09/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- pontocerebellar hypoplasia type 6 Monarch
HI Evidence Comments:
Variants in RARS2 have been identified in individuals with pontocerebellar hypoplasia type 6, an autosomal recessive condition.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)