Variant #0000514024 (NC_000002.11:g.208994241C>T, CRYGD(NM_006891.3):c.-5044G>A)

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.208994241C>T
DNA change (hg38) g.208129517C>T
Published as CRYGC(NM_020989.3):c.176G>A (p.(Arg59Gln))
ISCN -
DB-ID CRYGB_000015
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) 7.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 -?/. - c.*13121G>A r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.-5044G>A r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.176G>A r.(?) p.(Arg59Gln)