Variant #0000061001 (NC_000002.11:g.208994404T>G, CRYGC(NM_020989.3):c.13A>C)

Individual ID 00033858
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.208994404T>G
DNA change (hg38) g.208129680T>G
Published as 225A>C
ISCN -
DB-ID CRYGC_000001 See all 5 reported entries
Variant remarks not in 430 control chromosomes
Reference PubMed: Heon 1999, OMIM:var0001
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGC NM_020989.3 +/. 2 c.13A>C r.(?) p.(Thr5Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033926 DNA SEQ - - CRYGC 1 Johan den Dunnen