Variant #0000061021 (NC_000002.11:g.208989018G>T, CRYGD(NM_006891.3):c.70C>A)

Individual ID 00033864
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.208989018G>T
DNA change (hg38) g.208124294G>T
Published as P23T
ISCN -
DB-ID CRYGD_000002 See all 11 reported entries
Variant remarks -
Reference PubMed: Santhiya 2002, OMIM:var0004
ClinVar ID -
dbSNP ID rs28931605
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
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     
CRYGD NM_006891.3 +/. 2 c.70C>A r.(?) p.(Pro24Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033932 DNA SEQ - - CRYGD 1 Johan den Dunnen