Variant #0000439754 (NC_000016.9:g.70302259C>T, AARS(NM_001605.2):c.986G>A)

Individual ID 00208547
Chromosome 16
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
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 9 reported entries
Variant remarks ACMG grading: PS3,PP1,PM2,PP5; reported in Latour P 2009. Am J Hum Genet 86: 77-82
Reference -
ClinVar ID -
dbSNP ID rs267606621
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Andreas Laner
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     
0000209595 DNA SEQ-NG - - - 3 Andreas Laner