Genomic variant #0000239143

Individual ID 00000001
Chromosome 5
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.139184035A>G
Reference -
DB-ID SIL1_000042
dbSNP ID rs17131959
Frequency 0.0353
Homozygous 0
Heterozygote 24
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SIL1 NM_022464.4 ./. - c.-11+14234T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin