Genomic variant #0000000660

Individual ID 00000033
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78086721C>A
DNA change (hg38) g.80112922C>A
Published as -
ISCN -
DB-ID GAA_000020 See all 59 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

ClassClinical     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 ?/. VUS 14 c.1935C>A r.(?) p.(Asp645Glu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000033 DNA SEQ-NG - - ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A 13 LOVD-team, but with Curator vacancy