Variant #0000514021 (NC_000002.11:g.208988958T>C, CRYGD(NM_006891.3):c.130A>G)

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.208988958T>C
DNA change (hg38) g.208124234T>C
Published as CRYGD(NM_006891.3):c.130A>G (p.M44V)
ISCN -
DB-ID CRYGD_000032
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) 0.00774 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYGB NM_005210.3 -?/. - c.*18404A>G r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.130A>G r.(?) p.(Met44Val)
CRYGC NM_020989.3 -?/. - c.*3969A>G r.(=) p.(=)