Variant #0000783431 (NC_000004.11:g.15581593dup, NM_001080522.2:c.3774dup (CC2D2A))

Individual ID 00372222
Chromosome 4
Allele Parent #1
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.15581593dup
DNA change (hg38) g.15579970dup
Published as NM_001080522.2:c.3774dupT
ISCN -
DB-ID CC2D2A_000023 See all 5 reported entries
Variant remarks -
Reference PubMed: Bachmann-Gagescu 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-05-07 09:26:25 +02:00 (CEST)
Date last edited 2025-03-14 09:56:37 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CC2D2A NM_001080522.2 +/. - c.3774dup r.(?) p.(Glu1259*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000373451 DNA SEQ - 27-gene panel CC2D2A 2 LOVD


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