Variant #0000664166 (NC_000016.9:g.70302259C>T, AARS(NM_001605.2):c.986G>A)

Individual ID 00300155
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.70302259C>T
DNA change (hg38) g.70268356C>T
Published as -
ISCN -
DB-ID AARS_000001 See all 30 reported entries
Variant remarks -
Reference PubMed: Antoniadi 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +/. - c.986G>A r.(?) p.(Arg329His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301271 DNA SEQ - 56-gene neuropathy panel AARS 1 Johan den Dunnen