Variant #0000514026 (NC_000002.11:g.208994354_208994356del, CRYGD(NM_006891.3):c.-5159_-5157del)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994354_208994356del
DNA change (hg38) g.208129630_208129632del
Published as CRYGC(NM_020989.3):c.61_63delACT (p.T21del)
ISCN -
DB-ID CRYGB_000017 See all 2 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) Variant not found in online data sets
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.*13006_*13008del r.(=) p.(=)
CRYGD NM_006891.3 +?/. - c.-5159_-5157del r.(?) p.(=)
CRYGC NM_020989.3 +?/. - c.61_63del r.(?) p.(Thr21del)