Genomic variant #0000116899

Individual ID 00073118
Chromosome 2
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994293delA
DNA change (hg38) g.208129569delA
Published as -
ISCN -
DB-ID CRYGC_000013 See all 2 reported entries
Variant remarks -
Reference PubMed: Kondo 2013
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jamie Zeegers




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGC NM_020989.3 +/. 2 c.124delT - r.(?) p.(Cys42Alafs*61)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073277 DNA SEQ;SEQ-NG - - CRYGC 1 Jamie Zeegers