Genomic variant #0000115463

Individual ID 00000001
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.167133480_167133482del
Reference -
DB-ID SCN9A_000060
dbSNP ID rs386652353
Frequency 0.037
Allele Count 19
Allele Number 516
Combined Depth 8274
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     
SCN9A NM_002977.3 ./. - c.2841+11_2841+13del r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin