Genomic variant #0000487421

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78078656G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID GAA_000003 See all 63 reported entries
Variant remarks functional analysis using expression cloning in minigene splicing assay
Reference Dardis 2019, submitted
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02307 View details
Owner Andrea Elena Dardis




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 +/. NA 2 c.271G>A r.[271g>a, -32_486del, -32_546del] p.[Asp91=, 0?] -