Variant #0000061785 (NC_000016.9:g.70299599dup, AARS(NM_001605.2):c.1223-34dup)

Individual ID 00034596
Chromosome 16
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.70299599dup
DNA change (hg38) g.70265696dup
Published as -
ISCN -
DB-ID AARS_000010
Variant remarks no impact on splice site
Reference -
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 Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 ?/. - c.1223-34dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034666 DNA SEQ - - AARS 1 Andreas Laner