Variant #0000790578 (NC_000004.11:g.?, NM_001142564.1:c.302G>A (CNGA1))

Individual ID 00376775
Chromosome 4
Allele Unknown
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.?
DNA change (hg38) -
Published as NM_000087.3:c.95G>A
ISCN -
DB-ID TRAPPC11_000000 See all 81 reported entries
Variant remarks -
Reference PubMed: Wang 2014
ClinVar ID -
dbSNP ID rs76537883
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-25 14:31:53 +02:00 (CEST)
Date last edited N/A




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNGA1 NM_001142564.1 ?/. - c.302G>A r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377981 DNA SEQ-NG - 66-gene panel - 3 LOVD


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