Genomic variant #0000563495

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78078656G>A
DNA change (hg38) -
Published as GAA(NM_000152.3):c.271G>A (p.D91N)
ISCN -
DB-ID GAA_000003 See all 63 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.02307 View details
Owner VKGL-NL_Nijmegen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

ClassClinical     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 ?/. - VUS c.271G>A r.(?) p.(Asp91Asn) -
CCDC40 NM_017950.3 ?/. - VUS c.*5082G>A r.(=) p.(=) -