Genomic variant #0000043258

Individual ID 00000001
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.115829178C>T
Reference -
DB-ID NGF_000002
dbSNP ID rs11466111
Frequency 0.012
Allele Count 6
Allele Number 516
Combined Depth 10273
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.01176 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NGF NM_002506.2 ./. - c.239G>A r.(?) p.(Arg80Gln)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin