Genomic variant #0000243667

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78092585C>T
Reference dbSNP
DB-ID GAA_000008
dbSNP ID rs1800315
Frequency 0.02534
Average frequency (large NGS studies) 0.04706 View details
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     
GAA NM_000152.3 ./. - c.2780C>T - r.(?) p.(Thr927Ile)



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904756 Admin