Variant #0001010240 (NC_000002.11:g.98986505C>T, NM_001298.2:c.67C>T (CNGA3))

Individual ID 00454941
Chromosome 2
Allele Parent #1
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.98986505C>T
DNA change (hg38) g.98370042C>T
Published as -
ISCN -
DB-ID CNGA3_000028 See all 19 reported entries
Variant remarks ACMG PVS1, PS4_moderate, PM2_sup
Reference PubMed: Andersen 2023
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 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.67C>T r.(?) p.(Arg23Ter) -



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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