Variant #0000061039 (NC_000002.11:g.208986637T>C, CRYGD(NM_006891.3):c.285A>G)

Individual ID 00034010
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.208986637T>C
DNA change (hg38) g.208121913T>C
Published as 285G>A (R95R)
ISCN -
DB-ID CRYGD_000006 See all 10 reported entries
Variant remarks -
Reference PubMed: Santhiya 2004
ClinVar ID -
dbSNP ID rs2305430
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.84805 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGD NM_006891.3 -/. 3 c.285A>G r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034078 DNA SEQ - - CRYBB2, CRYGB, CRYGD 9 Johan den Dunnen