Variant #0000061017 (NC_000002.11:g.208992955G>A, CRYGC(NM_020989.3):c.497C>T)

Individual ID 00034022
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.208992955G>A
DNA change (hg38) g.208128231G>A
Published as -
ISCN -
DB-ID CRYGC_000009
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Ivan Prokudin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivan Prokudin
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGC NM_020989.3 ?/. 3 c.497C>T r.(?) p.(Ser166Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034090 DNA SEQ;SEQ-NG-I - - CRYGC 1 Ivan Prokudin