Variant #0001007269 (NC_000003.11:g.182788864dup, NM_020166.3:c.684dup (MCCC1))

Individual ID 00453624
Chromosome 3
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.182788864dup
DNA change (hg38) g.183071076dup
Published as 684dupA
ISCN -
DB-ID MCCC1_000014 See all 2 reported entries
Variant remarks -
Reference PubMed: Navarrete 2019
ClinVar ID -
dbSNP ID rs773583869
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-09-11 15:27:41 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MCCC1 NM_020166.3 +/. 7 c.684dup r.(?) p.(Glu229ArgfsTer8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000455236 DNA SEQ;SEQ-NG - 119-gene panel - 2 Johan den Dunnen


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