Genomic variant #0000555830

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.77416251A>G
Reference -
DB-ID SEPT9_000021
dbSNP ID rs11650011
Frequency 0.3824
Homozygous 62
Heterozygote 136
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SEPT9 NM_001113491.1 ./. - c.721+13548A>G - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin