Variant #0000800284 (NC_000002.11:g.208993050G>A, CRYGD(NM_006891.3):c.-3853C>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.208993050G>A
DNA change (hg38) -
Published as CRYGC(NM_020989.3):c.402C>T (p.Y134=)
ISCN -
DB-ID CRYGB_000026
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) 0.00019 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.*14312C>T r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.-3853C>T r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.402C>T r.(?) p.(Tyr134=)