Genomic variant #0000237427

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.138386585C>T
Reference -
DB-ID SIL1_000014
dbSNP ID rs371570238
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 4392
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 8.0E-5 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.353+42G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin