Variant #0000454956 (NC_000016.9:g.70310990T>C, AARS(NM_001605.2):c.212A>G)

Individual ID 00218991
Chromosome 16
Allele Parent #1
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.70310990T>C
DNA change (hg38) g.70277087T>C
Published as -
ISCN -
DB-ID AARS_000028
Variant remarks ACMG pm1, pm2, pm4
Reference PubMed: Dohrn 2017, Journal: Dohrn 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/612 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.212A>G r.(?) p.(Asn71Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220063 DNA SEQ;SEQ-NG - targeted multigene panel AARS 1 Johan den Dunnen