Genomic variant #0000238291

Individual ID 00000001
Chromosome 12
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.57783508C>T
Reference -
DB-ID TSFM_000001
dbSNP ID rs11172336
Frequency 0.0559
Homozygous 10
Heterozygote 18
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSFM NM_005726.5 ./. - c.231+225C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin