Variant #0000061060 (NC_000002.11:g.208988753A>G, CRYGD(NM_006891.3):c.252+83T>C)

Individual ID 00033884
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.208988753A>G
DNA change (hg38) g.208124029A>G
Published as IVS2+83 (570C>T)
ISCN -
DB-ID CRYGD_000018
Variant remarks -
Reference PubMed: Santhiya 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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 -/. 2i c.252+83T>C r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033952 DNA SEQ - - CRYAA, CRYGD 6 Johan den Dunnen