Variant #0000701825 (NC_000016.9:g.70289666T>C, AARS(NM_001605.2):c.2251A>G)

Individual ID 00317968
Chromosome 16
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.70289666T>C
DNA change (hg38) g.70255763T>C
Published as -
ISCN -
DB-ID AARS_000015 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID 190103
dbSNP ID rs143370729
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 4.0E-5 View details
Owner Fanny Kortüm
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 +?/. - c.2251A>G r.(?) p.(Arg751Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000319151 DNA SEQ-NG - WES - 2 Fanny Kortüm