chr15:89873488:G>A Detail (hg19) (POLG, POLGARF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:89,873,488-89,873,488 |
| hg38 | chr15:89,330,257-89,330,257 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001126131.1:c.679C>T | NP_001119603.1:p.Arg227Trp |
| NM_002693.2:c.679C>T | NP_002684.1:p.Arg227Trp | |
| Ensemble | ENST00000268124.11:c.679C>T | ENST00000268124.11:p.Arg227Trp |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000706918.1:c.734C>T | ENST00000706918.1:p.Ala245Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2009-03-24 | no assertion criteria provided | mitochondrial DNA depletion syndrome 4b |
germline
|
Detail |
|
Pathogenic
|
2023-06-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2024-01-20 | criteria provided, multiple submitters, no conflicts | Progressive sclerosing poliodystrophy |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2019-04-09 | criteria provided, single submitter | Abnormality of corpus callosum |
germline
|
Detail |
|
Likely pathogenic
|
2021-05-27 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Mitochondrial DNA depletion syndrome 4b | ClinVar | Detail |
| NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND not provided | ClinVar | Detail |
| NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Progressive sclerosing poliodystrophy | ClinVar | Detail |
| NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Abnormality of corpus callosum | ClinVar | Detail |
| NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Inborn genetic diseases | ClinVar | Detail |
| NA | 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
- rs121918056 dbSNP
- Genome
- hg19
- Position
- chr15:89,873,488-89,873,488
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser