Genomic variant #0000438267

Individual ID 00000032
Chromosome 17
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78078403_78078410del
DNA change (hg38) -
Published as -
ISCN -
DB-ID GAA_000358 See all 2 reported entries
Variant remarks -
Reference PubMed: Oba-Shinjo 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pim Pijnappel




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 +/. - 2 c.18_25del r.(?) p.(Cys8Profs*24) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000208416 DNA SEQ - - GAA 2 Pim Pijnappel