Variant #0001010318 (NC_000002.11:g.98994178_98994199dup, NM_001298.2:c.130_151dup (CNGA3))

Individual ID 00454941
Chromosome 2
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.98994178_98994199dup
DNA change (hg38) g.98377715_98377736dup
Published as -
ISCN -
DB-ID CNGA3_000045 See all 10 reported entries
Variant remarks ACMG PVS1, PM2_sup, PS4_sup, PM3_sup
Reference PubMed: Andersen 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Susanne Kohl
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-09-30 16:23:56 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CNGA3 NM_001298.2 +/. - c.130_151dup r.(?) p.(Ala51ValfsTer16) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000456554 DNA SEQ;SEQ-NG - gene panel - 2 Susanne Kohl


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