Genomic variant #0000061015

Individual ID 00033989
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.208993095G>A
DNA change (hg38) g.208128371G>A
Published as C>T S119S
ISCN -
DB-ID CRYGC_000007
Variant remarks not in 100 control chromosomes; 1/11 families tested (5/7 affecteds)
Reference PubMed: Santana 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site 01/11/15
VIP 0
Methylation -
Average frequency (large NGS studies) 0.01484 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 -/. 3 c.357C>T - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034057 DNA SEQ - - CRYAA, CRYGC, CRYGD 4 Johan den Dunnen