Genomic variant #0000238165

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.140054257C>T
Reference -
DB-ID HARS_000002
dbSNP ID rs58302597
Frequency 0.2
Allele Count 103
Allele Number 516
Combined Depth 6744
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.18069 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.4 ./. - c.1458+7G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin