Variant #0000344889 (NC_000002.11:g.208994256_208994265del, CRYGD(NM_006891.3):c.-5066_-5057del)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994256_208994265del
DNA change (hg38) g.208129532_208129541del
Published as -
ISCN -
DB-ID CRYGC_000022
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 +/. - c.*13099_*13108del r.(=) p.(=)
CRYGD NM_006891.3 +/. - c.-5066_-5057del r.(?) p.(=)
CRYGC NM_020989.3 +/. - c.154_163del r.(?) p.(Gln52AsnfsTer48)