Variant #0000059826 (NC_000001.10:g.197313508T>G, CRB1(NM_201253.2):c.750T>G)

Individual ID 00033052
Chromosome 1
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.197313508T>G
DNA change (hg38) g.197344378T>G
Published as -
ISCN -
DB-ID CRB1_000009 See all 14 reported entries
Variant remarks -
Reference PubMed: Henderson 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +?/. 3 c.750T>G r.(?) p.(Cys250Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033120 DNA SEQ - - CRB1 2 Johan den Dunnen