Variant #0000126818 (NC_000016.9:g.776086C>T, NC_000016.9(NM_001031737.2):c.61-1G>A (CCDC78))

Individual ID 00078900
Chromosome 16
Allele Maternal (confirmed)
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.776086C>T
DNA change (hg38) g.726086C>T
Published as -
ISCN -
DB-ID CCDC78_000001 See all 5 reported entries
Variant remarks linkage analysis, whole exome sequencing; lymphoblast RNA
Reference PubMed: Majczenko 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-09-07 15:20:17 +02:00 (CEST)
Date last edited 2021-06-04 17:43:11 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CCDC78 NM_001031737.2 +/. 1i c.61-1G>A r.60_61ins[60+1_61-2;a] p.Asn20_Val21ins74



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079086 DNA;RNA RT-PCR;SEQ;SEQ-NG - - CCDC78 1 Johan den Dunnen


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