Genomic variant #0000464255

Individual ID 00222553
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 64 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
Options




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     
0000223624 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde