Variant #0000000602 (NC_000016.9:g.28497286_28498251del, CLN3(NM_001042432.1):c.461-280_677+382del)

Individual ID 00000010
Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.28497286_28498251del
DNA change (hg38) g.28485965_28486930del
Published as UNDEFINED; IN VICINITY OF INTRONS 6-8, EXONS7-8, CHR16:28405752_28404787
ISCN -
DB-ID CLN3_000002 See all 19 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Gerard C.P. Schaafsma
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     
0000000010 DNA SEQ-NG - - ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH 13 Global Variome, with Curator vacancy