Variant #0000971728 (NC_000002.11:g.99012376A>G, NM_001298.2:c.743A>G (CNGA3))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.99012376A>G
DNA change (hg38) g.98395913A>G
Published as -
ISCN -
DB-ID CNGA3_000267 See all 3 reported entries
Variant remarks ACMG PM2_mod, PP2_sup, PS3_strong
Reference PubMed: Solaki 2023
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-03-13 10:27:56 +01:00 (CET)
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.743A>G r.(?) p.(Gln248Arg) TM3


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