Genomic variant #0000685111

Individual ID 00000001
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12359920G>A
Reference -
DB-ID AFG3L2_000002
dbSNP ID rs8097342
Frequency 0.683
Allele Count 328
Allele Number 480
Combined Depth 1113
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.68484 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AFG3L2 NM_006796.2 ./. - c.752+6C>T r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin