Variant #0000731352 (NC_000009.11:g.80877888dup, CEP78(NM_001098802.1):c.1449dup)

Individual ID 00332412
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.80877888dup
DNA change (hg38) g.78262972dup
Published as g.78262972dup, c.1449dup, p.(Arg484Thrfs*4)
ISCN -
DB-ID CEP78_000033
Variant remarks c.1449dup detected via WES-NGS and combined with exon 1-5 deletion of paternal origin (PMID:30526634) confirmed with Oxford Nanopore
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Elfride De Baere
Database submission license No license selected
Created by Elfride De Baere
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP78 NM_001098802.1 +?/. - c.1449dup r.(?) p.(Arg484Thrfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000333636 DNA SEQ-ON - - CEP78 2 Elfride De Baere