Genomic variant #0000337172

Individual ID 00000001
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.37005342C>T
Reference -
DB-ID EXOSC8_000001
dbSNP ID rs9547717
Frequency 0.8853
Homozygous 267
Heterozygote 66
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EXOSC8 NM_181503.2 ./. - c.239-578C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin