Genomic variant #0000238193

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.140070647C>A
Reference -
DB-ID HARS_000030
dbSNP ID rs1316265403
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 5643
Homozygous 0
Heterozygote 3
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.4 ./. - c.91-118G>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin