chr3:128199380:G>A Detail (hg19) (GATA2)

Information

Genome

Assembly Position
hg19 chr3:128,199,380-128,199,380
hg38 chr3:128,480,537-128,480,537 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032638.4:c.*482C>T
NM_001145662.1:c.*482C>T
NM_001145661.1:c.*482C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.047
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 137295 OMIM
HGNC 4171 HGNC
Ensembl ENSG00000179348 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv14159220 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-03-06 criteria provided, single submitter Deafness-lymphedema-leukemia syndrome germline Detail
Benign 2022-02-11 criteria provided, single submitter Deafness-lymphedema-leukemia syndrome,Monocytopenia with susceptibility to infections germline Detail
Benign 2022-02-11 criteria provided, single submitter Deafness-lymphedema-leukemia syndrome,Monocytopenia with susceptibility to infections germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 coronary artery disease The HNRPUL1 gene rs11881940T and GATA2 gene rs3803T loci were highly correlated ... BeFree 24782050 Detail
<0.001 coronary artery disease Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... BeFree 24782050 Detail
0.002 coronary artery disease Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes AT... BeFree 24782050 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_032638.5(GATA2):c.*482C>T AND Deafness-lymphedema-leukemia syndrome ClinVar Detail
NM_032638.5(GATA2):c.*482C>T AND multiple conditions ClinVar Detail
NM_032638.5(GATA2):c.*482C>T AND multiple conditions ClinVar Detail
The HNRPUL1 gene rs11881940T and GATA2 gene rs3803T loci were highly correlated with CAD (P &lt; 0.0... DisGeNET Detail
Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... DisGeNET Detail
Analysis of the rs10757278, rs11881940 and rs3803 loci showed that haplotypes ATC (OR = 4.26; 95%CI ... 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
rs3803 dbSNP
Genome
hg19
Position
chr3:128,199,380-128,199,380
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))
rs3803
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0474
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
794
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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