Genomic variant #0000237438

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.138472940C>T
Reference -
DB-ID SIL1_000025
dbSNP ID rs151239273
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 3665
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.-10-9398G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin