Variant #0000065924 (NC_000001.10:g.197313508T>G, CRB1(NM_201253.2):c.750T>G)

Individual ID 00037775
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.197313508T>G
DNA change (hg38) g.197344378T>G
Published as 885T>G
ISCN -
DB-ID CRB1_000009 See all 14 reported entries
Variant remarks not in 100 controls
Reference PubMed: den Hollander 1999
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III-
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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 +/. 3 c.750T>G r.(?) p.(Cys250Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038006 DNA SSCA;PCR;SEQ - - CRB1 2 Frans Cremers