Variant #0000764895 (NC_000001.10:g.197297888G>A, CRB1(NM_201253.2):c.407G>A)

Individual ID 00362905
Chromosome 1
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.197297888G>A
DNA change (hg38) g.197328758G>A
Published as -
ISCN -
DB-ID CRB1_000369 See all 3 reported entries
Variant remarks -
Reference PubMed: Weisschuh 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner LOVD
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 +?/. - c.407G>A r.(?) p.(Cys136Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000364133 DNA SEQ-NG - WES CRB1 2 LOVD