GARS1-DT

GARS1 divergent transcript, the group of Divergent transcripts

Basic information

Previous symbols: [ "GARS-DT" ]

Links

ENSG00000196295

∙ NCBI:401320 ∙ ∙ HGNC:48951 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GARS1-DT gene.

Charcot-Marie-Tooth disease type 2 (60 variants)
not provided (34 variants)
Charcot-Marie-Tooth disease type 2D (25 variants)
Distal spinal muscular atrophy (23 variants)
Neuronopathy, distal hereditary motor, type 5A (23 variants)
Inborn genetic diseases (15 variants)
not specified (11 variants)
Charcot-Marie-Tooth disease (10 variants)
Neuronopathy, distal hereditary motor, type 5A;Charcot-Marie-Tooth disease type 2D (2 variants)
Charcot-Marie-Tooth disease type 2D;Neuronopathy, distal hereditary motor, type 5A (1 variants)
Motor neuron disease (1 variants)
Spinal muscular atrophy, infantile, James type (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GARS1-DT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1 clinvar	1
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants			60 clinvar	32 clinvar	10 clinvar	102
Total	0	0	60	32	11

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP