Variant #0000930140 (NC_000012.11:g.6952812C>T, NM_002075.2:c.447C>T (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.6952812C>T
DNA change (hg38) -
Published as GNB3(NM_002075.4):c.447C>T (p.C149=)
ISCN -
DB-ID CDCA3_000013
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2023-07-07 10:10:56 +02:00 (CEST)
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.447C>T r.(?) p.(=)
LEPREL2 NM_014262.3 -?/. - c.*4187C>T r.(=) p.(=)
CDCA3 NM_031299.4 -?/. - c.*5395G>A r.(=) p.(=)


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