Genomic variant #0000629356

Individual ID 00274199
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.28497286_28498251del
DNA change (hg38) g.28485965_28486930del
Published as 461‑280_677+382del966
ISCN -
DB-ID CLN3_000002 See all 7 reported entries
Variant remarks -
Reference PubMed: Pronicka 2016
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency 1/113 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CLN3 NM_001042432.1 +/. - c.461-280_677+382del r.(?) p.(Gly154Alafs*29)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275354 DNA SEQ;SEQ-NG - WES CLN3 2 Johan den Dunnen