Variant #0000765955 (NC_000002.11:g.208994307C>T, CRYGC(NM_020989.3):c.110G>A)

Individual ID 00363777
Chromosome 2
Allele Unknown
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.208994307C>T
DNA change (hg38) g.208129583C>T
Published as -
ISCN -
DB-ID CRYGC_000023
Variant remarks -
Reference PubMed: Huang 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00011 View details
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.110G>A r.(?) p.(Arg37Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000365005 DNA SEQ-NG - gene panel CRYGC 1 LOVD