Genomic variant #0000238170

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.140054652G>C
Reference -
DB-ID HARS_000010
dbSNP ID rs34790864
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 9873
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00492 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.4 ./. - c.1261C>G r.(?) p.(Leu421Val)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin