Genomic variant #0000000664

Individual ID 00000031
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78078341T>G
DNA change (hg38) g.80104542T>G
Published as -
ISCN -
DB-ID GAA_000029 See all 274 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00416 View details
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 1i c.-32-13T>G r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000031 DNA SEQ-NG - - ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A 17 LOVD-team, but with Curator vacancy