Genomic variant #0000675257

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.75369549C>T
Reference -
DB-ID SEPT9_000020
dbSNP ID rs193055905
Frequency 0.003876
Allele Count 2
Allele Number 516
Combined Depth 7526
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.00305 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEPT9 NM_001113491.1 ./. - c.77-28592C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin