Genomic variant #0000061010

Individual ID 00033861
Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994274C>T
DNA change (hg38) g.208129550C>T
Published as -
ISCN -
DB-ID CRYGC_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Santhiya 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 03/17/15
Re-site HgaI
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01076 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGC NM_020989.3 ?/. 2 c.143G>A - r.(?) p.(Arg48His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033929 DNA SEQ - - CRYGC 1 Johan den Dunnen