Genomic variant #0000238181

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.140057386G>C
Reference -
DB-ID HARS_000018
dbSNP ID rs112113896
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 9331
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0093 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HARS NM_002109.4 ./. - c.631-48C>G r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin