Variant #0000718398 (NC_000002.11:g.209025634C>A, CRYGD(NM_006891.3):c.-36437G>T)

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.209025634C>A
DNA change (hg38) -
Published as CRYGA(NM_014617.3):c.419G>T (p.R140L)
ISCN -
DB-ID C2orf80_000001
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) 2.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C2orf80 NM_001099334.2 ?/. - c.*4897G>T r.(=) p.(=)
CRYGB NM_005210.3 ?/. - c.-14790G>T r.(?) p.(=)
CRYGD NM_006891.3 ?/. - c.-36437G>T r.(?) p.(=)
CRYGA NM_014617.3 ?/. - c.419G>T r.(?) p.(Arg140Leu)
CRYGC NM_020989.3 ?/. - c.-31118G>T r.(?) p.(=)