Genomic variant #0000685117

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.12366937C>T
Reference -
DB-ID AFG3L2_000008
dbSNP ID rs16977144
Frequency 0.005814
Allele Count 3
Allele Number 516
Combined Depth 7946
Homozygous -
Heterozygote -
Average frequency (large NGS studies) 0.03952 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AFG3L2 NM_006796.2 ./. - c.552+27G>A r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA SEQ-NG-I - 825713 Admin