Genomic variant #0000582226

Individual ID 00000001
Chromosome 8
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.116939281G>T
Reference -
DB-ID AARD_000003
dbSNP ID rs6998067
Frequency 0.4044
Homozygous 67
Heterozygote 139
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AARD NM_001025357.2 ./. - c.324+714G>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin