Variant #0000759958 (NC_000001.10:g.197398589G>C, CRB1(NM_201253.2):c.2687G>C)

Individual ID 00358970
Chromosome 1
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.197398589G>C
DNA change (hg38) g.197429459G>C
Published as -
ISCN -
DB-ID CRB1_000362 See all 3 reported entries
Variant remarks -
Reference PubMed: Tiwari 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRB1 NM_201253.2 +/. - c.2687G>C r.(?) p.(Cys896Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000360207 DNA SEQ-NG - WES - 7 LOVD