Variant #0000061012 (NC_000002.11:g.208994384G>A, CRYGC(NM_020989.3):c.33C>T)

Individual ID 00033971
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.208994384G>A
DNA change (hg38) g.208129660G>A
Published as A11A
ISCN -
DB-ID CRYGC_000004 See all 3 reported entries
Variant remarks -
Reference PubMed: Santhiya 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 01/17/15
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00145 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     
CRYGC NM_020989.3 -/. 2 c.33C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034039 DNA SEQ - - CRYGC 1 Johan den Dunnen