Variant #0000895582 (NC_000022.10:g.19055688G>A, NM_005137.2:c.253C>T (DGCR2))

Chromosome 22
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.19055688G>A
DNA change (hg38) -
Published as DGCR2(NM_005137.3):c.253C>T (p.R85W)
ISCN -
DB-ID DGCR2_000005
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) 0.00014 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2022-11-01 13:41:49 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DGCR2 NM_005137.2 ?/. - c.253C>T r.(?) p.(Arg85Trp)


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