Variant #0000736863 (NC_000002.11:g.208994354_208994356del, CRYGC(NM_020989.3):c.61_63del)

Individual ID 00336003
Chromosome 2
Allele Parent #1
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.208994354_208994356del
DNA change (hg38) g.208129630_208129632del
Published as -
ISCN -
DB-ID CRYGB_000017 See all 2 reported entries
Variant remarks no genotypes reported
Reference PubMed: Sergouniotis 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/181 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
CRYGC NM_020989.3 +?/. - c.61_63del r.(?) p.(Thr21del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000337233 DNA SEQ-NG - gene panel CRYGC 1 LOVD