Genomic variant #0000061004

Individual ID 00013661
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208994404T>G
DNA change (hg38) g.208129680T>G
Published as -
ISCN -
DB-ID CRYGC_000001 See all 5 reported entries
Variant remarks yeat-two-hybrid analysis decreased interaction CRYAA, CRYAB, CRYBB2, CRYGC (not with itself)
Reference PubMed: Fu 2003, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000013577 DNA SEQ leukocytes - APC 2 Stefan Aretz