Genomic variant #0000675327

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.75483676C>A
Reference -
DB-ID SEPT9_000062
dbSNP ID rs145874273
Frequency 0.023
Allele Count 12
Allele Number 516
Combined Depth 2711
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.02515 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEPT9 NM_001113491.1 ./. - c.1042+42C>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin