Variant #0000649392 (NC_000016.9:g.70286740C>T, AARS(NM_001605.2):c.2791G>A)

Individual ID 00291535
Chromosome 16
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70286740C>T
DNA change (hg38) g.70252837C>T
Published as -
ISCN -
DB-ID AARS_000013 See all 4 reported entries
Variant remarks 11 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs149377346
Origin Germline
Segregation -
Frequency 11/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0077 View details
Owner Mohammed Faruq
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARS NM_001605.2 -?/. - c.2791G>A r.(?) p.(Gly931Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000292703 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq