Genomic variant #0000514030

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.209010569C>T
DNA change (hg38) g.208145845C>T
Published as CRYGB(NM_005210.3):c.181G>A (p.G61R)
ISCN -
DB-ID CRYGB_000020
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00054 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 ?/. - c.181G>A r.(?) p.(Gly61Arg)
CRYGD NM_006891.3 ?/. - c.-21372G>A r.(?) p.(=)
CRYGC NM_020989.3 ?/. - c.-16053G>A r.(?) p.(=)