Variant #0000847778 (NC_000004.11:g.47951903G>T, NM_001142564.1:c.453C>A (CNGA1))

Individual ID 00409217
Chromosome 4
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.47951903G>T
DNA change (hg38) g.47949886G>T
Published as CNGA1 c.246C > A, p.Y82X
ISCN -
DB-ID CNGA1_000115 See all 2 reported entries
Variant remarks different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous
Reference PubMed: Wang 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-05 14:21:41 +02:00 (CEST)
Date last edited 2022-05-05 14:22:22 +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.246C>A r.(?) p.(Tyr82*)
CNGA1 NM_001142564.1 +?/. 6 c.453C>A r.(?) p.(Tyr151*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000410482 DNA SEQ-NG;SEQ - - CNGA1 2 LOVD


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