Genomic variant #0000274465

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.208992982C>T
DNA change (hg38) -
Published as CRYGC(NM_020989.3):c.470G>A (p.W157*)
ISCN -
DB-ID CRYGC_000006 See all 2 reported entries
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.*14380G>A pathogenic r.(=) p.(=)
CRYGD NM_006891.3 +/. - c.-3785G>A pathogenic r.(?) p.(=)
CRYGC NM_020989.3 +/. - c.470G>A pathogenic r.(?) p.(Trp157*)