Genomic variant #0000061017

Individual ID 00034022
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 (large NGS studies) Variant not found in online data sets
Owner Ivan Prokudin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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