Variant #0000061029 (NC_000002.11:g.208988912C>T, CRYGD(NM_006891.3):c.176G>A)

Individual ID 00033975
Chromosome 2
Allele Parent #1
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.208988912C>T
DNA change (hg38) g.208124188C>T
Published as 411G>A (R58H)
ISCN -
DB-ID CRYGD_000004 See all 3 reported entries
Variant remarks mapped by linkage, not in 210 control chromosomes
Reference PubMed: Heon 1999, OMIM:var0002
ClinVar ID -
dbSNP ID rs121909596
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 +/. 2 c.176G>A r.(?) p.(Arg59His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034043 DNA SEQ - - CRYGD 1 Johan den Dunnen