Variant #0000065662 (NC_000001.10:g.197297588C>G, CRB1(NM_201253.2):c.107C>G)

Individual ID 00038111
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.197297588C>G
DNA change (hg38) g.197328458C>G
Published as -
ISCN -
DB-ID CRB1_000064 See all 3 reported entries
Variant remarks -
Reference PubMed: Mckibbin 2010
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site Hpy188I+
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. 2 c.107C>G r.(?) p.(Ser36*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000038342 DNA SSCA;PCR;SEQ - - CRB1 2 Frans Cremers