Variant #0000166299 (NC_000002.11:g.208994408C>T, CRYGC(NM_020989.3):c.10-1G>A)

Individual ID 00102738
Chromosome 2
Allele Paternal (confirmed)
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.208994408C>T
DNA change (hg38) g.208129684C>T
Published as 20899414C>T
ISCN -
DB-ID CRYGC_000014
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Zongfu Cao
Database submission license No license selected
Created by Zongfu Cao
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGC NM_020989.3 +?/. 1i c.10-1G>A r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000103191 DNA SEQ - - CRYGC 1 Zongfu Cao