Genomic variant #0000274467

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208988848G>A
DNA change (hg38) -
Published as CRYGD(NM_006891.3):c.240C>T (p.R80=)
ISCN -
DB-ID CRYGD_000031
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYGB NM_005210.3 -?/. - c.*18514C>T likely benign r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.240C>T likely benign r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.*4079C>T likely benign r.(=) p.(=)