Genomic variant #0000238173

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.140056306T>C
Reference -
DB-ID HARS_000016
dbSNP ID rs139447495
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 9467
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00584 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.4 ./. - c.1127A>G r.(?) p.(Lys376Arg)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin