Variant #0000328064 (NC_000002.11:g.209010616A>G, CRYGD(NM_006891.3):c.-21419T>C)

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.209010616A>G
DNA change (hg38) g.208145892A>G
Published as CRYGB(NM_005210.3):c.134T>C (p.(Ile45Thr))
ISCN -
DB-ID CRYGB_000008
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 ?/. - c.134T>C r.(?) p.(Ile45Thr)
CRYGD NM_006891.3 ?/. - c.-21419T>C r.(?) p.(=)
CRYGC NM_020989.3 ?/. - c.-16100T>C r.(?) p.(=)