chrX:43731789:G>T Detail (hg38) (MAOA)
Information
Genome
Assembly | Position |
---|---|
hg19 | chrX:43,591,036-43,591,036 View the variant detail on this assembly version. |
hg38 | chrX:43,731,789-43,731,789 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000240.3:c.891G>T | NP_000231.1:p.Arg297= |
NM_001270458.1:c.492G>T | NP_001257387.1:p.Arg164= | |
Ensemble | ENST00000338702.4:c.891G>T | ENST00000338702.4:p.Arg297= |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.395 |
ToMMo:0.414 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.441 |
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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2015-07-16 | criteria provided, single submitter | not specified |
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Detail |
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2024-01-30 | criteria provided, multiple submitters, no conflicts | Brunner Syndrome |
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Detail |
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2015-06-22 | criteria provided, single submitter | Inborn genetic diseases |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.329 | attention deficit hyperactivity disorder | Gene-gene interaction analysis revealed significant additive effect of DBH rs110... | BeFree | 21216270 | Detail |
0.178 | attention deficit hyperactivity disorder | Gene-gene interaction analysis revealed significant additive effect of DBH rs110... | BeFree | 21216270 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND not specified | ClinVar | Detail |
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND Brunner syndrome | ClinVar | Detail |
NM_000240.4(MAOA):c.891G>T (p.Arg297=) AND Inborn genetic diseases | ClinVar | Detail |
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... | DisGeNET | Detail |
Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... | DisGeNET | 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
- rs6323 dbSNP
- Genome
- hg38
- Position
- chrX:43,731,789-43,731,789
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1203
- Mean of sample read depth (HGVD)
- 60.71
- Standard deviation of sample read depth (HGVD)
- 32.97
- Number of reference allele (HGVD)
- 1455
- Number of alternative allele (HGVD)
- 951
- Allele Frequency (HGVD)
- 0.39526184538653364
- Gene Symbol (HGVD)
- MAOA
- 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))
- rs6323
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4142
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5319
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12843
- East Asian Chromosome Counts (ExAC)
- 6563
- East Asian Allele Counts (ExAC)
- 2895
- East Asian Heterozygous Counts (ExAC)
- 1086
- East Asian Homozygous Counts (ExAC)
- 461
- East Asian Allele Frequency (ExAC)
- 0.4411092488191376
- Chromosome Counts in All Race (ExAC)
- 87434
- Allele Counts in All Race (ExAC)
- 57088
- Heterozygous Counts in All Race (ExAC)
- 11028
- Homozygous Counts in All Race (ExAC)
- 12444
- Allele Frequency in All Race (ExAC)
- 0.6529267790562024
- East Asian Hemizygous Counts (ExAC)
- 887
- Hemizygous Counts in All Race (ExAC)
- 21172
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