Variant #0000514018 (NC_000002.11:g.208988920G>C, CRYGD(NM_006891.3):c.168C>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.208988920G>C
DNA change (hg38) g.208124196G>C
Published as CRYGD(NM_006891.3):c.168C>G (p.Y56*)
ISCN -
DB-ID CRYGD_000011 See all 4 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00622 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 -/. - c.*18442C>G r.(=) p.(=)
CRYGD NM_006891.3 -/. - c.168C>G r.(?) p.(Tyr56Ter)
CRYGC NM_020989.3 -/. - c.*4007C>G r.(=) p.(=)