Variant #0000832526 (NC_000002.11:g.98994155_98994158del, NM_001298.2:c.107_110del (CNGA3))

Individual ID 00398626
Chromosome 2
Allele Parent #2
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.98994155_98994158del
DNA change (hg38) g.98377692_98377695del
Published as allele 1: c.1279C>T, p.R427C, allele 2: c.107_110del, p.H36RfsX118
ISCN -
DB-ID CNGA3_000112 See all 5 reported entries
Variant remarks heterozygous
Reference PubMed: Thomas 2012
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-07 14:40:16 +01:00 (CET)
Date last edited 2022-01-07 14:40:47 +01:00 (CET)
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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.107_110del r.(?) p.(His36Argfs*136) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399871 DNA SEQ blood - CNGA3 2 LOVD


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