Genomic variant #0000000663

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.78092054del
DNA change (hg38) g.80118255del
Published as -
ISCN -
DB-ID GAA_000182 See all 2 reported entries
Variant remarks Authors description: g.75706649_75706650; mutant allele C; not known correct genotype; undefined second mutation in affected CHT
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 18 c.2544del r.(?) p.(Lys849Argfs*38) -



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