Genomic variant #0000464251

Individual ID 00222498
Chromosome 17
Allele Parent #1
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 no second variant
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.02307 View details
Owner Madhuri Hegde




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000223569 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde