Genomic variant #0000478348

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect 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 predicted presumably non-pathogenic, unknown phenotype when combined with null allele; predicted CRIM+ (protein expressed); Align GVGD class C0 (GV: 65.47-GD: 3.99), SIFT tolerated (score: 0.08), Mutation Taster polymorphism (p-value: 0)
Reference Pompe disease database 587
ClinVar ID -
dbSNP ID rs1800299
Origin SUMMARY record
Segregation -
Frequency MAF >0.01
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02307 View details
Owner Pim Pijnappel




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 -?/. ACMG: 2 2 c.271G>A r.(?) p.(Asp91Asn) lowers affinity for glycogen (GAA2)