Variant #0000765596 (NC_000001.10:g.197297738_197297739dup, CRB1(NM_201253.2):c.257_258dup)

Individual ID 00363455
Chromosome 1
Allele Parent #2
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.197297738_197297739dup
DNA change (hg38) g.197328608_197328609dup
Published as 252_253insTG
ISCN -
DB-ID CRB1_000068 See all 6 reported entries
Variant remarks -
Reference PubMed: Ge 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. - c.257_258dup r.(?) p.(Asn87*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364683 DNA SEQ-NG - 195-gene panel CRB1 2 LOVD