Genomic variant #0000243668

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.80118785C>T
Reference -
DB-ID GAA_000008
dbSNP ID rs1800315
Frequency 0.0353
Homozygous 1
Heterozygote 22
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.2779C>T - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin