Genomic variant #0000712123

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.80106644C>T
Reference -
DB-ID GAA_000005
dbSNP ID rs8068051
Frequency 0.2912
Homozygous 24
Heterozygote 150
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GAA NM_000152.3 ./. - c.692+750C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin