Variant #0000065898 (NC_000001.10:g.197297561G>T, CRB1(NM_201253.2):c.80G>T)

Individual ID 00038347
Chromosome 1
Allele Paternal (inferred)
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.197297561G>T
DNA change (hg38) g.197328431G>T
Published as -
ISCN -
DB-ID CRB1_000063 See all 10 reported entries
Variant remarks -
Reference PubMed: Abu-Safieh 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
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 +?/. 2 c.80G>T r.(?) p.(Cys27Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038578 DNA PCR;SEQ - - CRB1 2 Frans Cremers