Genomic variant #0000341905

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.116938998A>C
Reference -
DB-ID AARD_000002
dbSNP ID rs16889285
Frequency 0.9824
Homozygous 329
Heterozygote 8
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+431A>C r.(=) p.(=)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin