Genomic variant #0000237415

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.138286854A>G
Reference -
DB-ID SIL1_000002
dbSNP ID rs57028146
Frequency 0.007752
Allele Count 4
Allele Number 516
Combined Depth 9004
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02599 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.1029+6T>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin