Variant #0000828848 (NC_000013.10:g.50126319del, NM_018191.3:c.707del (RCBTB1))

Individual ID 00395863
Chromosome 13
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.50126319del
DNA change (hg38) g.49552183del
Published as RCBTB1 c.[707del];[707del], V1: c.707delA, (p.Asn236ThrfsTer11)
ISCN -
DB-ID RCBTB1_000016 See all 17 reported entries
Variant remarks homozygous
Reference PubMed: Chen 2021
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 2021-12-09 13:32:39 +01:00 (CET)
Date last edited 2025-06-11 05:36:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RCBTB1 NM_018191.3 +/. - c.707del r.(?) p.(Asn236Thrfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397102 DNA SEQ-NG blood 212 inherited retinal disease-related genes RCBTB1 1 LOVD


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