Variant #0000059615 (NC_000004.11:g.15513014_15513016del, NM_001080522.2:c.685_687del (CC2D2A))

Individual ID 00033091
Chromosome 4
Allele Parent #1
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.15513014_15513016del
DNA change (hg38) g.15511391_15511393del
Published as -
ISCN -
DB-ID CC2D2A_000002 See all 6 reported entries
Variant remarks -
Reference PubMed: Neveling 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Kornelia Neveling
Database submission license No license selected
Created by Kornelia Neveling
Date created 2012-02-28 21:01:35 +01:00 (CET)
Date last edited 2013-10-03 16:55:12 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CC2D2A NM_001080522.2 ?/. 9 c.685_687del r.(?) p.(Glu229del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033159 DNA SEQ;SEQ-NG-S - - CC2D2A, CRB1, RP2, SEMA4A, TOPORS 6 Kornelia Neveling


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