chr12:6954624:G>A Detail (hg19) (GNB3, CDCA3)

Information

Genome

Assembly Position
hg19 chr12:6,954,624-6,954,624
hg38 chr12:6,845,460-6,845,460 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001297603.1:c.*1328C>T
Ensemble ENST00000422785.7:c.*1328C>T
Type Transcript Protein
RefSeq NM_001297571.1:c.700-126G>A
NM_002075.3:c.700-126G>A
Ensemble ENST00000229264.8:c.700-126G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.504
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607749 OMIM
HGNC 14624 HGNC
Ensembl ENSG00000111665 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44834684 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 139130 OMIM
HGNC 4400 HGNC
Ensembl ENSG00000111664 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv44834684 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.019 myocardial infarction This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
0.017 myocardial infarction This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
0.017 Cerebrovascular accident This study investigates whether the interaction between diuretics and alpha-addu... BeFree 17189961 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002075.4(GNB3):c.700-126G>A AND not provided ClinVar Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail
This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2301339 dbSNP
Genome
hg19
Position
chr12:6,954,624-6,954,624
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2301339
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5036
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8440
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser