Variant #0001046922 (NC_000017.10:g.78081447G>A, NM_000152.3:c.784G>A (GAA))

Chromosome 17
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.78081447G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID GAA_000100 See all 13 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs201896815
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2025-07-13 11:26:01 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 +/. - c.784G>A r.(?) p.(Glu262Lys) -


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