chr4:46388678:A>G Detail (hg38) (GABRA2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:46,390,695-46,390,695 View the variant detail on this assembly version. |
hg38 | chr4:46,388,678-46,388,678 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001114175.1:c.29T>C | NP_001107647.1:p.Met10Thr |
NM_000807.2:c.29T>C | NP_000798.2:p.Met10Thr | |
NM_001286827.1:c.29T>C | NP_001273756.1:p.Met10Thr |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-04-25 | criteria provided, single submitter | not provided |
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Detail |
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2021-06-03 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
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2021-12-28 | criteria provided, single submitter | Developmental and epileptic encephalopathy, 78 |
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Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000807.4(GABRA2):c.29T>C (p.Met10Thr) AND not provided | ClinVar | Detail |
NM_000807.4(GABRA2):c.29T>C (p.Met10Thr) AND Inborn genetic diseases | ClinVar | Detail |
NM_000807.4(GABRA2):c.29T>C (p.Met10Thr) AND Developmental and epileptic encephalopathy, 78 | ClinVar | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs200327122 dbSNP
- Genome
- hg38
- Position
- chr4:46,388,678-46,388,678
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121378
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.29549012176836E-5
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