chr6:49447749:A>T Detail (hg38) (MMUT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:49,415,462-49,415,462 View the variant detail on this assembly version. |
| hg38 | chr6:49,447,749-49,447,749 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000255.3:c.1481T>A | NP_000246.2:p.Leu494Ter |
| Ensemble | ENST00000274813.4:c.1481T>A | ENST00000274813.4:p.Leu494Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 4 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2017-03-28 | criteria provided, single submitter | methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
unknown
|
Detail |
|
Pathogenic
|
2019-08-05 | criteria provided, single submitter | methylmalonic acidemia |
germline
|
Detail |
|
Pathogenic
|
2023-09-26 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) AND Methylmalonic aciduria due to methylmalonyl-CoA mutase... | ClinVar | Detail |
| NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) AND Methylmalonic acidemia | ClinVar | Detail |
| NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) AND not provided | ClinVar | 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
- rs764173488 dbSNP
- Genome
- hg38
- Position
- chr6:49,447,749-49,447,749
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- 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))
- rs764173488
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0003
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5
- 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)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1606313834726091E-4
- Chromosome Counts in All Race (ExAC)
- 120406
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.305233958440609E-6
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