Variant #0000679635 (NC_000012.11:g.6954902A>G, NM_002075.2:c.852A>G (GNB3))

Chromosome 12
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.6954902A>G
DNA change (hg38) -
Published as GNB3(NM_002075.3):c.852A>G (p.L284=)
ISCN -
DB-ID CDCA3_000008
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) 0.00036 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 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2020-09-15 15:50:26 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNB3 NM_002075.2 -?/. - c.852A>G r.(?) p.(Leu284=)
CDCA3 NM_031299.4 -?/. - c.*3305T>C r.(=) p.(=)


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