Variant #0000061045 (NC_000002.11:g.208989037A>G, CRYGD(NM_006891.3):c.51T>C)

Individual ID 00033989
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.208989037A>G
DNA change (hg38) g.208124313A>G
Published as Y17Y
ISCN -
DB-ID CRYGD_000007 See all 10 reported entries
Variant remarks variant in family
Reference PubMed: Santana 2009
ClinVar ID -
dbSNP ID rs2242074
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.58373 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGD NM_006891.3 -/. 2 c.51T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034057 DNA SEQ - - CRYAA, CRYGC, CRYGD 4 Johan den Dunnen