chr5:162101274:C>T Detail (hg38) (GABRG2)

Information

Genome

Assembly Position
hg19 chr5:161,528,280-161,528,280 View the variant detail on this assembly version.
hg38 chr5:162,101,274-162,101,274

HGVS

Type Transcript Protein
RefSeq NM_198903.2:c.588C>T NP_944493.2:p.Asn196=
NM_198904.2:c.588C>T NP_944494.1:p.Asn196=
NM_000816.3:c.588C>T NP_000807.2:p.Asn196=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.538
ToMMo:0.540
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.599

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 137164 OMIM
HGNC 4087 HGNC
Ensembl ENSG00000113327 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv23520985 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-07-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2018-01-13 criteria provided, single submitter Epilepsy, childhood absence 2 germline Detail
Benign 2017-04-28 criteria provided, single submitter Febrile seizures, familial, 8 germline Detail
Benign 2024-02-01 criteria provided, single submitter Epilepsy, childhood absence 2,Febrile seizures, familial, 8 germline Detail
Benign 2024-02-01 criteria provided, single submitter Epilepsy, childhood absence 2,Febrile seizures, familial, 8 germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2016-01-11 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.164 Seizures Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence an... BeFree 22239287 Detail
0.194 epilepsy Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence an... BeFree 22239287 Detail
0.006 Seizures Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence an... BeFree 22239287 Detail
0.143 Febrile Convulsions This study showed significant association of GABRG2 rs211037 with susceptibility... BeFree 23140995 Detail
0.200 hepatic encephalopathy Multivariate analysis indicated that hypoalbuminemia (<3 g/dL), long-acting (... BeFree 24482035 Detail
<0.001 Myoclonic Epilepsy, Juvenile A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.... BeFree 24061200 Detail
0.005 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
0.003 Seizures The aim of our study was to find out the possible role of single nucleotide poly... BeFree 20356767 Detail
<0.001 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
0.143 Febrile Convulsions GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiep... BeFree 24061200 Detail
0.018 epilepsy GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis... BeFree 23140995 Detail
0.200 hepatic encephalopathy Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (... BeFree 24482035 Detail
0.018 epilepsy GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiep... BeFree 24061200 Detail
<0.001 Hypoalbuminemia Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (... BeFree 24482035 Detail
<0.001 idiopathic generalized epilepsy Several studies have examined a possible link between the exonic GABRG2 rs211037... BeFree 23140995 Detail
<0.001 Hypoalbuminemia Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (... BeFree 24482035 Detail
<0.001 epilepsy We investigated the association of single-nucleotide polymorphisms in GABA(A) re... BeFree 24061200 Detail
0.006 Seizures The aim of our study was to find out the possible role of single nucleotide poly... BeFree 20356767 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND not specified ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND Epilepsy, childhood absence 2 ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND Febrile seizures, familial, 8 ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND multiple conditions ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND multiple conditions ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND not provided ClinVar Detail
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND Inborn genetic diseases ClinVar Detail
Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on ant... DisGeNET Detail
Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on ant... DisGeNET Detail
Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on ant... DisGeNET Detail
This study showed significant association of GABRG2 rs211037 with susceptibility to FS, caused by tw... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.08) and genotypic (P... DisGeNET Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) pre... DisGeNET Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resista... DisGeNET Detail
GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis. DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resista... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
Several studies have examined a possible link between the exonic GABRG2 rs211037 locus and susceptib... DisGeNET Detail
Multivariate analysis indicated that hypoalbuminemia (&lt;3 g/dL), long-acting (t 1/2 &gt; 12-h), hi... DisGeNET Detail
We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subty... DisGeNET Detail
The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) pre... 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
rs211037 dbSNP
Genome
hg38
Position
chr5:162,101,274-162,101,274
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1138
Mean of sample read depth (HGVD)
57.95
Standard deviation of sample read depth (HGVD)
31.48
Number of reference allele (HGVD)
1051
Number of alternative allele (HGVD)
1224
Allele Frequency (HGVD)
0.538021978021978
Gene Symbol (HGVD)
GABRG2
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))
rs211037
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5404
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9057
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8590
East Asian Allele Counts (ExAC)
5146
East Asian Heterozygous Counts (ExAC)
1986
East Asian Homozygous Counts (ExAC)
1580
East Asian Allele Frequency (ExAC)
0.5990686845168801
Chromosome Counts in All Race (ExAC)
120986
Allele Counts in All Race (ExAC)
34530
Heterozygous Counts in All Race (ExAC)
23260
Homozygous Counts in All Race (ExAC)
5635
Allele Frequency in All Race (ExAC)
0.28540492288363944
Genome browser