Genomic variant #0000061014

Individual ID 00033974
Chromosome 2
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208992982C>T
DNA change (hg38) g.208128258C>T
Published as -
ISCN -
DB-ID CRYGC_000006 See all 2 reported entries
Variant remarks not in 200 control chromosomes
Reference PubMed: Zhang 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGC NM_020989.3 +/. 3 c.470G>A - r.(?) p.(Trp157*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034042 DNA SEQ - - CRYGC 1 Johan den Dunnen