Genomic variant #0000061007

Individual ID 00033860
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.208992950G>A
DNA change (hg38) g.208128226G>A
Published as -
ISCN -
DB-ID CRYGC_000003 See all 3 reported entries
Variant remarks -
Reference PubMed: Santhiya 2002, OMIM:var0003
ClinVar ID -
dbSNP ID rs28931604
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.502C>T - r.(?) p.(Arg168Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033928 DNA SEQ - - CRYGC 1 Johan den Dunnen