Variant #0000096860 (NC_000002.11:g.208993050G>C, CRYGC(NM_020989.3):c.402C>G)

Individual ID 00065031
Chromosome 2
Allele Parent #1
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.208993050G>C
DNA change (hg38) g.208128326G>C
Published as -
ISCN -
DB-ID CRYGC_000010
Variant remarks -
Reference PubMed: Gillespie 2014, Journal: Gillespie 2014
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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 +/. 3 c.402C>G r.(?) p.(Tyr134*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065173 DNA SEQ;SEQ-NG - - CRYGC 1 Johan den Dunnen