Variant #0000794298 (NC_000004.11:g.47951884del, NM_001142564.1:c.472del (CNGA1))

Individual ID 00379820
Chromosome 4
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47951884del
DNA change (hg38) g.47949867del
Published as NM_000087.3:c.265del, NP_000078.2:p.(Leu89PhefsTer4), NC_000004.11:g.47951884del
ISCN -
DB-ID CNGA1_000047 See all 16 reported entries
Variant remarks different transcript (NM_000087.3) in publication
Reference PubMed: Wang 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-08-10 08:08:19 +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     
CNGA1 NM_001142564.1 +/. 6 c.472del r.(?) p.(Leu158Phefs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000381022 DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD CNGA1 1 LOVD


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