Genomic variant #0000061012

Individual ID 00033971
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994384G>A
DNA change (hg38) g.208129660G>A
Published as A11A
ISCN -
DB-ID CRYGC_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Santhiya 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 01/17/15
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.33C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034039 DNA SEQ - - CRYGC 1 Johan den Dunnen