Variant #0000814763 (NC_000004.11:g.47951884del, NM_001142564.1:c.472del (CNGA1))

Individual ID 00385712
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 CNGA1 c.472delC, p.(Leu158Phefs*4)
ISCN -
DB-ID CNGA1_000047 See all 16 reported entries
Variant remarks homozygous
Reference PubMed: Dan 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 2021-10-14 15:38:02 +02:00 (CEST)
Date last edited 2021-10-14 15:40:19 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CNGA1 NM_000087.3 +/. - c.265del r.(?) p.(Leu89Phefs*4)
CNGA1 NM_001142564.1 +/. 5 c.472del r.(?) p.(Leu158Phefs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386940 DNA SEQ-NG blood Panel 4 containing 370 genes CNGA1 1 LOVD


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