Variant #0000478751 (NC_000002.11:g.29294424T>A, NM_001298.2:c.-69668611T>A (CNGA3))

Individual ID 00234409
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.29294424T>A
DNA change (hg38) g.29071558T>A
Published as -
ISCN -
DB-ID C2orf71_000096 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Date created 2019-05-17 09:46:50 +02:00 (CEST)
Date last edited 2019-05-17 09:58:16 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
C2orf71 NM_001029883.2 +/. - c.2704A>T r.(?) p.(Lys902*) -
CNGA3 NM_001298.2 +/. - c.-69668611T>A r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235512 DNA SEQ - - - 2 IMGAG


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