Genomic variant #0000237426

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.138378394G>A
Reference -
DB-ID SIL1_000013
dbSNP ID rs115800498
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 7566
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.0063 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.368C>T r.(?) p.(Thr123Ile)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin