Genomic variant #0000061006

Individual ID 00033859
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.208994294_208994298dup
DNA change (hg38) g.208129570_208129574dup
Published as -
ISCN -
DB-ID CRYGC_000002
Variant remarks mapped by linkage (LOD score 6.0)
Reference PubMed: Ren 2000, OMIM:var0002
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 +/. 2 c.119_123dup - r.(?) p.(Cys42Alafs*63)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033927 DNA SEQ - - CRYGC 1 Johan den Dunnen