Genomic variant #0000108298

Individual ID 00000001
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.12369128A>G
Reference -
DB-ID AFG3L2_000005
dbSNP ID rs7228252
Frequency 0.8176
Homozygous 233
Heterozygote 88
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AFG3L2 NM_006796.2 ./. - c.292+1721T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin