Genomic variant #0000525930

Individual ID 00000001
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.37576821G>A
Reference -
DB-ID EXOSC8_000005
dbSNP ID rs949875627
Frequency 0.001938
Allele Count 1
Allele Number 516
Combined Depth 2175
Homozygous 0
Heterozygote 1
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.118+133G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin