Genomic variant #0000339633

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.208989037A>G
DNA change (hg38) -
Published as CRYGD(NM_006891.3):c.51T>C (p.Y17=), LOC100507443(NR_038437.1):n.97+5088A>G
ISCN -
DB-ID CRYGD_000007 See all 10 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.57443 View details
Owner VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGB NM_005210.3 -/. - c.*18325T>C benign r.(=) p.(=)
CRYGD NM_006891.3 -/. - c.51T>C benign r.(?) p.(=)
CRYGC NM_020989.3 -/. - c.*3890T>C benign r.(=) p.(=)