chr5:161322889:G>A Detail (hg19) (GABRA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:161,322,889-161,322,889 |
| hg38 | chr5:161,895,883-161,895,883 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000806.5:c.1059+15G>A | |
| NM_001127644.1:c.1059+15G>A | ||
| NM_001127643.1:c.1059+15G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.487 |
| ToMMo:0.503 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.434 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
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, idiopathic generalized, susceptibility to, 13 |
germline
|
Detail |
|
Benign
|
2015-03-03 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Benign
|
2021-08-10 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 19 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 13,idiopathic generalized epilepsy,Epilepsy, childhood absence 4 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 13,idiopathic generalized epilepsy,Epilepsy, childhood absence 4 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Epilepsy, idiopathic generalized, susceptibility to, 13,idiopathic generalized epilepsy,Epilepsy, childhood absence 4 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 |
| <0.001 | 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
| Descrption | Source | Links |
|---|---|---|
| NM_001127644.2(GABRA1):c.1059+15G>A AND not specified | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND Epilepsy, idiopathic generalized, susceptibility to, 13 | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND not provided | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND Developmental and epileptic encephalopathy, 19 | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND multiple conditions | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND multiple conditions | ClinVar | Detail |
| NM_001127644.2(GABRA1):c.1059+15G>A AND multiple conditions | ClinVar | 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 |
| 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
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2279020 dbSNP
- Genome
- hg19
- Position
- chr5:161,322,889-161,322,889
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 836
- Mean of sample read depth (HGVD)
- 21.48
- Standard deviation of sample read depth (HGVD)
- 11.76
- Number of reference allele (HGVD)
- 858
- Number of alternative allele (HGVD)
- 814
- Allele Frequency (HGVD)
- 0.4868421052631579
- Gene Symbol (HGVD)
- GABRA1
- 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))
- rs2279020
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5029
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8428
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8616
- East Asian Allele Counts (ExAC)
- 3737
- East Asian Heterozygous Counts (ExAC)
- 2137
- East Asian Homozygous Counts (ExAC)
- 800
- East Asian Allele Frequency (ExAC)
- 0.433727948003714
- Chromosome Counts in All Race (ExAC)
- 121316
- Allele Counts in All Race (ExAC)
- 75111
- Heterozygous Counts in All Race (ExAC)
- 27993
- Homozygous Counts in All Race (ExAC)
- 23559
- Allele Frequency in All Race (ExAC)
- 0.6191351511754426
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