Variant #0000117003 (NC_000002.11:g.208992981C>T, CRYGC(NM_020989.3):c.471G>A)

Individual ID 00073189
Chromosome 2
Allele Paternal (confirmed)
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.208992981C>T
DNA change (hg38) g.208128257C>T
Published as -
ISCN -
DB-ID CRYGC_000012 See all 6 reported entries
Variant remarks -
Reference PubMed: Guo 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jamie Zeegers
Database submission license No license selected
Created by Jamie Zeegers
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGC NM_020989.3 +/. 3 c.471G>A r.(?) p.(Trp157*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073347 DNA PCR - - CRYGC 1 Jamie Zeegers