Variant #0000688606 (NC_000002.11:g.209010519G>A, CRYGD(NM_006891.3):c.-21322C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.209010519G>A
DNA change (hg38) -
Published as CRYGB(NM_005210.3):c.231C>T (p.R77=)
ISCN -
DB-ID CRYGB_000024
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 -?/. - c.231C>T r.(?) p.(Arg77=)
CRYGD NM_006891.3 -?/. - c.-21322C>T r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.-16003C>T r.(?) p.(=)