Variant #0000000608 (NC_000016.9:g.28497286_28498251del, NC_000016.9(NM_001042432.1):c.461-280_677+382del (CLN3))

Individual ID 00000028
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 INTRONS 6-8, 966BPDEL, EXONS7-8DEL AND FS, CHR16:28405752_28404787DEL
ISCN -
DB-ID CLN3_000002 See all 23 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
Date created 2011-04-06 16:20:25 +02:00 (CEST)
Date last edited 2025-07-08 17:59:23 +02:00 (CEST)
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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     
0000000028 DNA SEQ-NG - - ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2 17 Global Variome, with Curator vacancy


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