Variant #0000274468 (NC_000002.11:g.208986546C>T, CRYGD(NM_006891.3):c.376G>A)

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.208986546C>T
DNA change (hg38) g.208121822C>T
Published as CRYGD(NM_006891.3):c.376G>A (p.V126M)
ISCN -
DB-ID CRYGD_000030
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) 0.00194 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.*20816G>A r.(=) p.(=)
CRYGD NM_006891.3 ?/. - c.376G>A r.(?) p.(Val126Met)
CRYGC NM_020989.3 ?/. - c.*6381G>A r.(=) p.(=)