Variant #0000174207 (NC_000002.11:g.208989007C>T, CRYGD(NM_006891.3):c.81G>A)

Individual ID 00073667
Chromosome 2
Allele Paternal (confirmed)
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.208989007C>T
DNA change (hg38) g.208124283C>T
Published as Q26Q
ISCN -
DB-ID CRYGD_000027 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 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 -/. 2 c.81G>A r.(=) p.(Gln27=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000073826 DNA PCR - - CRYGD 2 Jamie Zeegers