Variant #0000274464 (NC_000002.11:g.208993135C>T, CRYGD(NM_006891.3):c.-3938G>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.208993135C>T
DNA change (hg38) g.208128411C>T
Published as CRYGC(NM_020989.3):c.317G>A (p.S106N)
ISCN -
DB-ID CRYGC_000016
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) 0.00356 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.*14227G>A r.(=) p.(=)
CRYGD NM_006891.3 -?/. - c.-3938G>A r.(?) p.(=)
CRYGC NM_020989.3 -?/. - c.317G>A r.(?) p.(Ser106Asn)