Genomic variant #0000675315

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.75478481C>T
Reference -
DB-ID SEPT9_000103
dbSNP ID rs425139
Frequency 0.61
Allele Count 315
Allele Number 516
Combined Depth 15027
Homozygous -
Heterozygote -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEPT9 NM_001113491.1 ./. - c.913+64C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin