Genomic variant #0000500768

Individual ID 00000001
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.58190142G>A
Reference -
DB-ID TSFM_000021
dbSNP ID rs114694283
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 9249
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01407 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ./. - c.754G>A r.(?) p.(Val252Ile)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin