Genomic variant #0000164193

Individual ID 00101008
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78078656G>A
DNA change (hg38) g.80104857G>A
Published as -
ISCN -
DB-ID GAA_000003 See all 63 reported entries
Variant remarks -
Reference PubMed: Hermans 1998
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02307 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 -?/. likely benign 2 c.271G>A r.(?) p.(Asp91Asn) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000101431 DNA SEQ - - GAA 5 Arnold Reuser