Variant #0000664044 (NC_000016.9:g.70292050T>C, AARS(NM_001605.2):c.2063A>G)

Individual ID 00300033
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.70292050T>C
DNA change (hg38) g.70258147T>C
Published as -
ISCN -
DB-ID AARS_000059
Variant remarks AD, segregates with disease
Reference PubMed: Antoniadi 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.2063A>G r.(?) p.(Glu688Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000301149 DNA SEQ - 56-gene neuropathy panel AARS 1 Johan den Dunnen