Variant #0000724219 (NC_000012.11:g.6954909G>A, NM_002075.2:c.859G>A (GNB3))

Chromosome 12
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.6954909G>A
DNA change (hg38) -
Published as GNB3(NM_002075.3):c.859G>A (p.A287T)
ISCN -
DB-ID CDCA3_000011
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-02-08 18:36:18 +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     
GNB3 NM_002075.2 ?/. - c.859G>A r.(?) p.(Ala287Thr)
CDCA3 NM_031299.4 ?/. - c.*3298C>T r.(=) p.(=)


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