Variant #0000065850 (NC_000001.10:g.197297619del, CRB1(NM_201253.2):c.138del)

Individual ID 00038299
Chromosome 1
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.197297619del
DNA change (hg38) g.197328489del
Published as c.[136delA]
ISCN -
DB-ID CRB1_000066 See all 6 reported entries
Variant remarks -
Reference PubMed: Li 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Frans Cremers
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Frans Cremers
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. 2 c.138del r.(?) p.(Asp47Ilefs*24)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038530 DNA PCR;SEQ - - CRB1 2 Frans Cremers